MCID: FML249
MIFTS: 35

Familial Amyloidosis, Finnish Type

Categories: Bone diseases, Eye diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Familial Amyloidosis, Finnish Type

MalaCards integrated aliases for Familial Amyloidosis, Finnish Type:

Name: Familial Amyloidosis, Finnish Type 20
Amyloid Cranial Neuropathy with Lattice Corneal Dystrophy 20
Lattice Corneal Dystrophy Type Ii Finnish 20
Familial Amyloid Polyneuropathy, Type Iv 70
Familial Amyloid Polyneuropathy Type Iv 20
Type Iv Familial Amyloid Polyneuropathy 54
Amyloidosis, Familial, Finnish Type 6
Lattice Corneal Dystrophy Type Ii 70
Hereditary Gelsolin Amyloidosis 20
Amyloidosis, Meretoja Type 20
Meretoja Syndrome 70
Agel Amyloidosis 20
Amyloidosis V 20

Classifications:



Summaries for Familial Amyloidosis, Finnish Type

GARD : 20 Familial amyloidosis, Finnish type, or gelsolin amyloidosis, is a condition characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin. The 3 main features are amyloid deposits in the cornea ( corneal lattice dystrophy ), bilateral facial paralysis, and cutis laxa ("sagging" skin). Symptoms generally worsen with age. This condition is inherited in an autosomal dominant manner and is caused by mutations in the GSN gene. Treatment generally focuses on specific signs and symptoms. Plastic surgery may relieve problems caused by facial paralysis and cutis laxa.

MalaCards based summary : Familial Amyloidosis, Finnish Type, also known as amyloid cranial neuropathy with lattice corneal dystrophy, is related to amyloidosis, finnish type and lattice corneal dystrophy type ii. An important gene associated with Familial Amyloidosis, Finnish Type is GSN (Gelsolin). Affiliated tissues include eye, spleen and kidney, and related phenotypes are dry skin and keratoconjunctivitis sicca

Wikipedia : 73 Familial Amyloidosis, Finnish Type (FAF), also called hereditary gelsolin amyloidosis and AGel... more...

Related Diseases for Familial Amyloidosis, Finnish Type

Diseases in the Amyloidosis, Finnish Type family:

Familial Amyloidosis, Finnish Type

Diseases related to Familial Amyloidosis, Finnish Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 amyloidosis, finnish type 11.5
2 lattice corneal dystrophy type ii 11.3
3 amyloidosis 10.7
4 hereditary amyloidosis 10.7
5 recurrent corneal erosion 10.3
6 ataxia and polyneuropathy, adult-onset 10.3
7 polyneuropathy 10.3
8 corneal dystrophy 10.2
9 lattice corneal dystrophy 10.2
10 peripheral nervous system disease 10.1
11 fainting 10.1
12 cerebral amyloid angiopathy, cst3-related 10.0
13 proteinuria, chronic benign 10.0
14 facial paralysis 10.0
15 retinitis pigmentosa 10.0
16 neuroretinitis 10.0
17 sensory peripheral neuropathy 10.0
18 retinitis 10.0
19 skin disease 10.0
20 end stage renal disease 10.0
21 al amyloidosis 10.0
22 amyloid neuropathy 10.0
23 amyloidosis aa 10.0
24 erythrokeratoderma ''en cocardes'' 10.0
25 autonomic dysfunction 10.0
26 amyloidosis, hereditary, transthyretin-related 10.0
27 carpal tunnel syndrome 10.0
28 seizures, benign familial neonatal, 1 10.0
29 anhidrosis 10.0
30 autonomic neuropathy 10.0
31 nephrotic syndrome 10.0
32 cutis laxa 10.0
33 blepharochalasis 10.0
34 kidney disease 10.0
35 neuropathy 10.0
36 pure autonomic failure 10.0
37 lichen amyloidosis 10.0
38 eye disease 9.8

Graphical network of the top 20 diseases related to Familial Amyloidosis, Finnish Type:



Diseases related to Familial Amyloidosis, Finnish Type

Symptoms & Phenotypes for Familial Amyloidosis, Finnish Type

Human phenotypes related to Familial Amyloidosis, Finnish Type:

31 (show all 38)
# Description HPO Frequency HPO Source Accession
1 dry skin 31 hallmark (90%) HP:0000958
2 keratoconjunctivitis sicca 31 hallmark (90%) HP:0001097
3 bilateral ptosis 31 hallmark (90%) HP:0001488
4 dermatological manifestations of systemic disorders 31 hallmark (90%) HP:0001005
5 lattice corneal dystrophy 31 hallmark (90%) HP:0001149
6 ataxia 31 frequent (33%) HP:0001251
7 facial palsy 31 frequent (33%) HP:0010628
8 hearing impairment 31 frequent (33%) HP:0000365
9 cataract 31 frequent (33%) HP:0000518
10 visual impairment 31 frequent (33%) HP:0000505
11 arrhythmia 31 frequent (33%) HP:0011675
12 bruising susceptibility 31 frequent (33%) HP:0000978
13 corneal ulceration 31 frequent (33%) HP:0012804
14 polyneuropathy 31 frequent (33%) HP:0001271
15 cutis laxa 31 frequent (33%) HP:0000973
16 constrictive median neuropathy 31 frequent (33%) HP:0012185
17 xerostomia 31 frequent (33%) HP:0000217
18 myokymia 31 frequent (33%) HP:0002411
19 regional abnormality of skin 31 frequent (33%) HP:0011356
20 distal peripheral sensory neuropathy 31 frequent (33%) HP:0007067
21 dysarthria 31 occasional (7.5%) HP:0001260
22 sleep apnea 31 occasional (7.5%) HP:0010535
23 proteinuria 31 occasional (7.5%) HP:0000093
24 glaucoma 31 occasional (7.5%) HP:0000501
25 pruritus 31 occasional (7.5%) HP:0000989
26 sparse hair 31 occasional (7.5%) HP:0008070
27 cardiomyopathy 31 occasional (7.5%) HP:0001638
28 orthostatic hypotension due to autonomic dysfunction 31 occasional (7.5%) HP:0004926
29 diffuse skin atrophy 31 occasional (7.5%) HP:0007488
30 tongue atrophy 31 occasional (7.5%) HP:0012473
31 blepharochalasis 31 occasional (7.5%) HP:0010749
32 abnormal spleen morphology 31 occasional (7.5%) HP:0025408
33 depressivity 31 very rare (1%) HP:0000716
34 bulbar signs 31 very rare (1%) HP:0002483
35 nail dystrophy 31 very rare (1%) HP:0008404
36 respiratory tract infection 31 very rare (1%) HP:0011947
37 stage 5 chronic kidney disease 31 very rare (1%) HP:0003774
38 deficit in phonologic short-term memory 31 very rare (1%) HP:0002549

Drugs & Therapeutics for Familial Amyloidosis, Finnish Type

Search Clinical Trials , NIH Clinical Center for Familial Amyloidosis, Finnish Type

Genetic Tests for Familial Amyloidosis, Finnish Type

Anatomical Context for Familial Amyloidosis, Finnish Type

MalaCards organs/tissues related to Familial Amyloidosis, Finnish Type:

40
Eye, Spleen, Kidney, Tongue, Skin

Publications for Familial Amyloidosis, Finnish Type

Articles related to Familial Amyloidosis, Finnish Type:

(show top 50) (show all 52)
# Title Authors PMID Year
1
Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis, Finnish type (FAP IV). 6 61
7868127 1995
2
Haplotype analysis in gelsolin-related amyloidosis reveals independent origin of identical mutation (G654A) of gelsolin in Finland and Japan. 6 61
7550233 1995
3
Familial amyloidosis, Finnish type: G654----a mutation of the gelsolin gene in Finnish families and an unrelated American family. 61 6
1322359 1992
4
Gelsolin variant (Asn-187) in familial amyloidosis, Finnish type. 61 6
2176481 1990
5
Mutation in gelsolin gene in Finnish hereditary amyloidosis. 61 6
2175344 1990
6
Isolation and characterization of cardiac amyloid in familial amyloid polyneuropathy type IV (Finnish): relation of the amyloid protein to variant gelsolin. 6 54
2176550 1990
7
Database for the mutations of the Finnish disease heritage. 6
11754099 2002
8
Inherited amyloid polyneuropathy type IV (gelsolin variant) in a Japanese family. 6
8388189 1993
9
Homozygosity for the Asn187 gelsolin mutation in Finnish-type familial amyloidosis is associated with severe renal disease. 6
1322360 1992
10
Solid-phase minisequencing test reveals Asp187----Asn (G654----A) mutation of gelsolin in all affected individuals with Finnish type of familial amyloidosis. 6
1315718 1992
11
Gelsolin gene mutation--at codon 187--in familial amyloidosis, Finnish: DNA-diagnostic assay. 6
1311149 1992
12
Amyloidosis due to a mutation of the gelsolin gene in an American family with lattice corneal dystrophy type II. 6
1658654 1991
13
Finnish type of familial amyloidosis: cosegregation of Asp187----Asn mutation of gelsolin with the disease in three large families. 6
1652889 1991
14
Immunohistochemical localization of amyloid in Finnish hereditary amyloidosis with antibodies to gelsolin peptides. 6
1848334 1991
15
Finnish hereditary amyloidosis. Amino acid sequence homology between the amyloid fibril protein and human plasma gelsoline. 6
2153578 1990
16
Lattice corneal dystrophy associated with familial systemic amyloidosis (Meretoja's syndrome). 6
6610849 1983
17
Three forms of dominant amyloid neuropathy. 6
6975851 1981
18
Genetic aspects of familial amyloidosis with corneal lattice dystrophy and cranial neuropathy. 6
4543600 1973
19
The role of gelsolin domain 3 in familial amyloidosis (Finnish type). 61
31243148 2019
20
Selective and Sensitive Pull Down of Amyloid Fibrils Produced in Vitro and in Vivo by the Use of Pentameric-Thiophene-Coupled Resins. 61
29762014 2018
21
Non-Invasive Imaging of Amyloid Deposits in a Mouse Model of AGel Using 99mTc-Modified Nanobodies and SPECT/CT. 61
27130233 2016
22
Penetrating keratoplasty for corneal amyloidosis in familial amyloidosis, Finnish type. 61
25444639 2015
23
Ca2+ binding by domain 2 plays a critical role in the activation and stabilization of gelsolin. 61
19666512 2009
24
Corneal melt in lattice corneal dystrophy type II after cataract surgery. 61
19101443 2009
25
Gelsolin-related familial amyloidosis, Finnish type, in a Portuguese family: clinical and neurophysiological studies. 61
14639586 2003
26
Loss of a metal-binding site in gelsolin leads to familial amyloidosis-Finnish type. 61
11753432 2002
27
Corneal morphology and sensitivity in lattice dystrophy type II (familial amyloidosis, Finnish type). 61
11222521 2001
28
The disintegration of a molecule: the role of gelsolin in FAF, familial amyloidosis (Finnish type). 61
11226199 2001
29
Elucidating the mechanism of familial amyloidosis- Finnish type: NMR studies of human gelsolin domain 2. 61
10995458 2000
30
Late onset lattice corneal dystrophy with systemic familial amyloidosis, amyloidosis V, in an English family. 61
10729296 2000
31
Equilibria and kinetics of folding of gelsolin domain 2 and mutants involved in familial amyloidosis-Finnish type. 61
10500162 1999
32
Gelsolin-related spinal and cerebral amyloid angiopathy. 61
10072044 1999
33
Cells of the neuronal lineage play a major role in the generation of amyloid precursor fragments in gelsolin-related amyloidosis. 61
9632693 1998
34
Gelsolin-related familial amyloidosis, Finnish type (FAF), and its variants found worldwide. 61
9547007 1998
35
The crystal structure of plasma gelsolin: implications for actin severing, capping, and nucleation. 61
9288746 1997
36
[Familial amyloidosis, Finnish type with marked anhidrosis]. 61
8741346 1996
37
[Variable clinical manifestations of familial amyloid polyneuropathy and living related liver transplantation]. 61
8752421 1995
38
Apolipoprotein E increases the fibrillogenic potential of synthetic peptides derived from Alzheimer's, gelsolin and AA amyloids. 61
7672107 1995
39
Toward understanding the pathogenic mechanisms in gelsolin-related amyloidosis: in vitro expression reveals an abnormal gelsolin fragment. 61
7881424 1994
40
Autonomic nervous system and cardiac involvement in familial amyloidosis, Finnish type (FAF). 61
7836945 1994
41
Neuropathy in familial amyloidosis , Finnish type (FAF): electrophysiological studies. 61
8107706 1994
42
Immunohistochemical analysis of lattice corneal dystrophies types I and II. 61
8110676 1993
43
Variant plasma gelsolin responsible for familial amyloidosis (Finnish type) has defective actin severing activity. 61
8243656 1993
44
Homozygous familial amyloidosis, Finnish type: demonstration of glomerular gelsolin-derived amyloid and non-amyloid tubular gelsolin. 61
8395367 1993
45
Demonstration of a circulating 65K gelsolin variant specific for familial amyloidosis, Finnish type. 61
8383491 1993
46
Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187. 61
1338910 1992
47
An immunohistochemical study of gelsolin immunoreactivity in corneal amyloidosis. 61
1315488 1992
48
Creation of amyloid fibrils from mutant Asn187 gelsolin peptides. 61
1311922 1992
49
Gelsolin variant and beta-amyloid co-occur in a case of Alzheimer's with Lewy bodies. 61
1660109 1991
50
Lewy bodies are immunoreactive with antibodies raised to gelsolin related amyloid-Finnish type. 61
1850958 1991

Variations for Familial Amyloidosis, Finnish Type

ClinVar genetic disease variations for Familial Amyloidosis, Finnish Type:

6 (show top 50) (show all 80)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GSN NM_198252.3(GSN):c.487G>T (p.Asp163Tyr) SNV Pathogenic 16181 rs121909715 GRCh37: 9:124073097-124073097
GRCh38: 9:121310819-121310819
2 GSN NM_198252.3(GSN):c.487G>A (p.Asp163Asn) SNV Pathogenic 16180 rs121909715 GRCh37: 9:124073097-124073097
GRCh38: 9:121310819-121310819
3 GSN NM_198252.3(GSN):c.1192-1G>A SNV Pathogenic 1031449 GRCh37: 9:124083545-124083545
GRCh38: 9:121321267-121321267
4 GSN NM_001127666.2(GSN):c.*126T>C SNV Uncertain significance 364840 rs886063411 GRCh37: 9:124095007-124095007
GRCh38: 9:121332729-121332729
5 GSN NM_001127666.2(GSN):c.*205G>A SNV Uncertain significance 364843 rs779431879 GRCh37: 9:124095086-124095086
GRCh38: 9:121332808-121332808
6 GSN NM_001127666.2(GSN):c.-47-159_-47-153del Deletion Uncertain significance 632532 rs1564468965 GRCh37: 9:124062173-124062179
GRCh38: 9:121299895-121299901
7 GSN NM_001127666.2(GSN):c.-47-114G>A SNV Uncertain significance 364795 rs886063405 GRCh37: 9:124062220-124062220
GRCh38: 9:121299942-121299942
8 GSN NM_001127666.2(GSN):c.579T>G (p.Asn193Lys) SNV Uncertain significance 364804 rs752698745 GRCh37: 9:124074649-124074649
GRCh38: 9:121312371-121312371
9 GSN NM_001127666.2(GSN):c.*185G>A SNV Uncertain significance 364841 rs757682798 GRCh37: 9:124095066-124095066
GRCh38: 9:121332788-121332788
10 GSN NM_001127666.2(GSN):c.1975A>G (p.Met659Val) SNV Uncertain significance 364827 rs886063406 GRCh37: 9:124091570-124091570
GRCh38: 9:121329292-121329292
11 GSN NM_001127666.2(GSN):c.1586G>A (p.Arg529His) SNV Uncertain significance 364819 rs769400986 GRCh37: 9:124088926-124088926
GRCh38: 9:121326648-121326648
12 GSN NM_001127666.2(GSN):c.*194G>A SNV Uncertain significance 364842 rs886063412 GRCh37: 9:124095075-124095075
GRCh38: 9:121332797-121332797
13 GSN NM_001127666.2(GSN):c.2035G>A (p.Glu679Lys) SNV Uncertain significance 364828 rs886063407 GRCh37: 9:124093702-124093702
GRCh38: 9:121331424-121331424
14 GSN NM_001127666.2(GSN):c.40G>T (p.Val14Leu) SNV Uncertain significance 912416 GRCh37: 9:124064256-124064256
GRCh38: 9:121301978-121301978
15 GSN NM_001127666.2(GSN):c.261G>A (p.Ala87=) SNV Uncertain significance 912418 GRCh37: 9:124065220-124065220
GRCh38: 9:121302942-121302942
16 GSN NM_001127666.2(GSN):c.473T>C (p.Val158Ala) SNV Uncertain significance 913532 GRCh37: 9:124073050-124073050
GRCh38: 9:121310772-121310772
17 GSN NM_001127666.2(GSN):c.542G>C (p.Gly181Ala) SNV Uncertain significance 913533 GRCh37: 9:124073119-124073119
GRCh38: 9:121310841-121310841
18 GSN NM_001127666.2(GSN):c.1580A>G (p.Gln527Arg) SNV Uncertain significance 913570 GRCh37: 9:124088920-124088920
GRCh38: 9:121326642-121326642
19 GSN NM_001127666.2(GSN):c.*98T>A SNV Uncertain significance 912486 GRCh37: 9:124094979-124094979
GRCh38: 9:121332701-121332701
20 GSN NM_001127666.2(GSN):c.1690C>G (p.Leu564Val) SNV Uncertain significance 913572 GRCh37: 9:124089655-124089655
GRCh38: 9:121327377-121327377
21 GSN NM_001127666.2(GSN):c.919+12A>C SNV Uncertain significance 913913 GRCh37: 9:124079508-124079508
GRCh38: 9:121317230-121317230
22 GSN NM_001127666.2(GSN):c.947A>G (p.Lys316Arg) SNV Uncertain significance 913914 GRCh37: 9:124080711-124080711
GRCh38: 9:121318433-121318433
23 GSN NM_001127666.2(GSN):c.1031G>T (p.Gly344Val) SNV Uncertain significance 913915 GRCh37: 9:124080965-124080965
GRCh38: 9:121318687-121318687
24 GSN NM_001127666.2(GSN):c.30C>G (p.Asn10Lys) SNV Uncertain significance 915114 GRCh37: 9:124064246-124064246
GRCh38: 9:121301968-121301968
25 GSN NM_001127666.2(GSN):c.*28G>A SNV Uncertain significance 915197 GRCh37: 9:124094909-124094909
GRCh38: 9:121332631-121332631
26 GSN NM_198252.3(GSN):c.1037G>A (p.Arg346Gln) SNV Uncertain significance 364807 rs372681751 GRCh37: 9:124081004-124081004
GRCh38: 9:121318726-121318726
27 GSN NM_001127666.2(GSN):c.-47-119C>T SNV Uncertain significance 915112 GRCh37: 9:124062215-124062215
GRCh38: 9:121299937-121299937
28 GSN NM_198252.3(GSN):c.-9-2137C>T SNV Uncertain significance 364794 rs886063404 GRCh37: 9:124062104-124062104
GRCh38: 9:121299826-121299826
29 GSN NM_198252.3(GSN):c.1324T>C (p.Trp442Arg) SNV Uncertain significance 984957 GRCh37: 9:124083678-124083678
GRCh38: 9:121321400-121321400
30 GSN NM_198252.3(GSN):c.1585G>A (p.Glu529Lys) SNV Uncertain significance 930592 GRCh37: 9:124088958-124088958
GRCh38: 9:121326680-121326680
31 GSN NM_001127666.2(GSN):c.2078C>T (p.Thr693Met) SNV Likely benign 915194 GRCh37: 9:124094730-124094730
GRCh38: 9:121332452-121332452
32 GSN NM_001127666.2(GSN):c.2093G>A (p.Arg698Gln) SNV Likely benign 915195 GRCh37: 9:124094745-124094745
GRCh38: 9:121332467-121332467
33 GSN NM_001127666.2(GSN):c.460G>A (p.Gly154Arg) SNV Likely benign 913531 GRCh37: 9:124073037-124073037
GRCh38: 9:121310759-121310759
34 GSN NM_001127666.2(GSN):c.1684G>A (p.Ala562Thr) SNV Likely benign 913571 GRCh37: 9:124089649-124089649
GRCh38: 9:121327371-121327371
35 GSN NM_001127666.2(GSN):c.159C>T (p.Asp53=) SNV Likely benign 912417 GRCh37: 9:124064375-124064375
GRCh38: 9:121302097-121302097
36 GSN NM_001127666.2(GSN):c.1610G>A (p.Arg537Gln) SNV Likely benign 364822 rs528604896 GRCh37: 9:124088950-124088950
GRCh38: 9:121326672-121326672
37 GSN NM_001127666.2(GSN):c.756G>A (p.Ala252=) SNV Likely benign 364805 rs377624593 GRCh37: 9:124076271-124076271
GRCh38: 9:121313993-121313993
38 GSN NM_001127666.2(GSN):c.156C>T (p.Gly52=) SNV Likely benign 364797 rs774617795 GRCh37: 9:124064372-124064372
GRCh38: 9:121302094-121302094
39 GSN NM_001127666.2(GSN):c.265G>A (p.Ala89Thr) SNV Benign 364800 rs2230287 GRCh37: 9:124065224-124065224
GRCh38: 9:121302946-121302946
40 GSN NM_001127666.2(GSN):c.415G>A (p.Val139Met) SNV Benign 364803 rs41305623 GRCh37: 9:124072992-124072992
GRCh38: 9:121310714-121310714
41 GSN NM_001127666.2(GSN):c.1964C>T (p.Thr655Met) SNV Benign 364826 rs144434647 GRCh37: 9:124091559-124091559
GRCh38: 9:121329281-121329281
42 GSN NM_001127666.2(GSN):c.1568C>G (p.Thr523Ser) SNV Benign 364818 rs77681311 GRCh37: 9:124088908-124088908
GRCh38: 9:121326630-121326630
43 GSN NM_001127666.2(GSN):c.1272A>G (p.Thr424=) SNV Benign 364812 rs149375418 GRCh37: 9:124083593-124083593
GRCh38: 9:121321315-121321315
44 GSN NM_001127666.2(GSN):c.1596C>T (p.Ser532=) SNV Benign 364821 rs140414249 GRCh37: 9:124088936-124088936
GRCh38: 9:121326658-121326658
45 GSN NM_001127666.2(GSN):c.1727C>T (p.Thr576Met) SNV Benign 364824 rs76463933 GRCh37: 9:124089692-124089692
GRCh38: 9:121327414-121327414
46 GSN NM_001127666.2(GSN):c.1454G>A (p.Arg485His) SNV Benign 364815 rs142828669 GRCh37: 9:124088794-124088794
GRCh38: 9:121326516-121326516
47 GSN NM_001127666.2(GSN):c.276C>T (p.Thr92=) SNV Benign 364801 rs116956127 GRCh37: 9:124065235-124065235
GRCh38: 9:121302957-121302957
48 GSN NM_001127666.2(GSN):c.1546G>A (p.Gly516Arg) SNV Benign 364817 rs58750568 GRCh37: 9:124088886-124088886
GRCh38: 9:121326608-121326608
49 GSN NM_001127666.2(GSN):c.1588G>A (p.Ala530Thr) SNV Benign 364820 rs147554026 GRCh37: 9:124088928-124088928
GRCh38: 9:121326650-121326650
50 GSN NM_001127666.2(GSN):c.1696G>A (p.Val566Met) SNV Benign 364823 rs151208452 GRCh37: 9:124089661-124089661
GRCh38: 9:121327383-121327383

Expression for Familial Amyloidosis, Finnish Type

Search GEO for disease gene expression data for Familial Amyloidosis, Finnish Type.

Pathways for Familial Amyloidosis, Finnish Type

GO Terms for Familial Amyloidosis, Finnish Type

Sources for Familial Amyloidosis, Finnish Type

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....