AXPC1
MCID: PST036
MIFTS: 38

Posterior Column Ataxia with Retinitis Pigmentosa (AXPC1)

Categories: Eye diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Posterior Column Ataxia with Retinitis Pigmentosa

MalaCards integrated aliases for Posterior Column Ataxia with Retinitis Pigmentosa:

Name: Posterior Column Ataxia with Retinitis Pigmentosa 56 52 73 36 71
Pcarp 56 52 58 73
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome 58 29 6
Ataxia, Posterior Column, with Retinitis Pigmentosa 56 13 39
Axpc1 56 52 73
Autosomal Recessive Posterior Column Ataxia and Retinitis Pigmentosa 58

Characteristics:

Orphanet epidemiological data:

58
posterior column ataxia-retinitis pigmentosa syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
slowly progressive disorder


HPO:

31
posterior column ataxia with retinitis pigmentosa:
Inheritance autosomal recessive inheritance
Onset and clinical course slow progression childhood onset


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Posterior Column Ataxia with Retinitis Pigmentosa

NIH Rare Diseases : 52 Posterior column ataxia with retinitis pigmentosa (PCARP) is a genetic condition that affects vision and the nervous system. It is characterized by a loss of cells in the light sensitive tissue in the back of the eye (retinitis pigmentosa ), abnormalities in the body's unconscious perception of movement and spatial orientation (proprioception), and muscle weakness and breakdown (atrophy). Other signs and symptoms may include curvature of the spine (scoliosis ), an abnormal bending of the joints in the fingers (camptodactyly), and issues with the gastrointestinal system. PCARP is caused by mutations in the FLVCR1 gene and is inherited in an autosomal recessive manner. While there is no one treatment for this condition, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person's symptoms.

MalaCards based summary : Posterior Column Ataxia with Retinitis Pigmentosa, also known as pcarp, is related to posterior column ataxia and retinitis pigmentosa, and has symptoms including ataxia, ataxia, sensory and loss of proprioception. An important gene associated with Posterior Column Ataxia with Retinitis Pigmentosa is FLVCR1 (FLVCR Heme Transporter 1). Affiliated tissues include spinal cord, eye and bone, and related phenotypes are impaired vibration sensation in the lower limbs and intellectual disability

OMIM : 56 Posterior column ataxia with retinitis pigmentosa is an autosomal recessive neurologic disorder characterized by childhood-onset retinitis pigmentosa and later onset of gait ataxia due to sensory loss (summary by Ishiura et al., 2011). (609033)

KEGG : 36 Posterior column ataxia with retinitis pigmentosa (PCARP) is an autosomal recessive, childhood onset neurodegenerative disorder characterized by sensory ataxia and retinitis pigmentosa. It has been reported that PCARP is caused by mutations in FLVCR1, a gene encoding a heme-transporter protein.

UniProtKB/Swiss-Prot : 73 Posterior column ataxia with retinitis pigmentosa: A neurodegenerative syndrome beginning in infancy with areflexia and retinitis pigmentosa. Nyctalopia (night blindness) and peripheral visual field loss are usually evident during late childhood or teenage years, with subsequent progressive constriction of the visual fields and loss of central retinal function over time. A sensory ataxia caused by degeneration of the posterior columns of the spinal cord results in a loss of proprioceptive sensation that is clinically evident in the second decade of life and gradually progresses. Scoliosis, camptodactyly, achalasia, gastrointestinal dysmotility, and a sensory peripheral neuropathy are variable features of the disease. Affected individuals have no clinical or radiological evidence of cerebral or cerebellar involvement.

Related Diseases for Posterior Column Ataxia with Retinitis Pigmentosa

Diseases related to Posterior Column Ataxia with Retinitis Pigmentosa via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 posterior column ataxia 10.6
2 retinitis pigmentosa 10.6
3 ataxia and polyneuropathy, adult-onset 10.6
4 neuroretinitis 10.6
5 retinitis 10.6
6 hereditary ataxia 10.4
7 astigmatism 10.2
8 autosomal recessive disease 10.2
9 autonomic neuropathy 10.2
10 vitreous syneresis 10.2
11 polyneuropathy 10.2
12 sensory peripheral neuropathy 10.2
13 cataract 10.2
14 neuropathy 10.2

Graphical network of the top 20 diseases related to Posterior Column Ataxia with Retinitis Pigmentosa:



Diseases related to Posterior Column Ataxia with Retinitis Pigmentosa

Symptoms & Phenotypes for Posterior Column Ataxia with Retinitis Pigmentosa

Human phenotypes related to Posterior Column Ataxia with Retinitis Pigmentosa:

58 31 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 impaired vibration sensation in the lower limbs 58 31 hallmark (90%) Very frequent (99-80%) HP:0002166
2 intellectual disability 58 31 occasional (7.5%) Frequent (79-30%) HP:0001249
3 nyctalopia 58 31 frequent (33%) Frequent (79-30%) HP:0000662
4 rod-cone dystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000510
5 gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002066
6 visual loss 58 31 frequent (33%) Frequent (79-30%) HP:0000572
7 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
8 bone spicule pigmentation of the retina 58 31 frequent (33%) Frequent (79-30%) HP:0007737
9 axonal degeneration 58 31 frequent (33%) Frequent (79-30%) HP:0040078
10 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
11 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
12 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
13 osteomyelitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002754
14 areflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001284
15 positive romberg sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0002403
16 flexion contracture of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0012785
17 delayed gross motor development 58 31 occasional (7.5%) Occasional (29-5%) HP:0002194
18 muscle spasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0003394
19 camptodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0012385
20 abnormality of the spinal cord 58 31 occasional (7.5%) Occasional (29-5%) HP:0002143
21 gastrointestinal dysmotility 58 31 occasional (7.5%) Occasional (29-5%) HP:0002579
22 chronic pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0012532
23 truncal titubation 58 31 occasional (7.5%) Occasional (29-5%) HP:0030147
24 abnormal sensory nerve conduction velocity 58 31 occasional (7.5%) Occasional (29-5%) HP:0040132
25 seizure 31 occasional (7.5%) HP:0001250
26 bowel incontinence 58 31 very rare (1%) Very rare (<4-1%) HP:0002607
27 ataxia 58 31 Very frequent (99-80%) HP:0001251
28 seizures 58 Occasional (29-5%)
29 optic atrophy 31 HP:0000648
30 blindness 31 HP:0000618
31 gait disturbance 58 Frequent (79-30%)
32 skeletal muscle atrophy 31 HP:0003202
33 recurrent urinary tract infections 31 HP:0000010
34 achalasia 31 HP:0002571
35 scotoma 31 HP:0000575
36 broad-based gait 31 HP:0002136
37 impaired proprioception 58 Very frequent (99-80%)
38 pigmentary retinopathy 58 Frequent (79-30%)
39 distal muscle weakness 31 HP:0002460
40 urinary incontinence 31 HP:0000020
41 joint contracture of the hand 31 HP:0009473
42 abnormality of peripheral nerves 58 Frequent (79-30%)
43 sensory ataxia 31 HP:0010871
44 decreased sensory nerve conduction velocity 31 HP:0003448
45 delayed ability to walk 31 HP:0031936
46 undetectable electroretinogram 31 HP:0000550
47 ring scotoma 31 HP:0030529

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis

Genitourinary Bladder:
recurrent urinary tract infections
urinary incontinence

Neurologic Peripheral Nervous System:
areflexia
broad-based gait
positive romberg sign
sensory ataxia
loss of proprioception
more
Skeletal Hands:
camptodactyly

Head And Neck Eyes:
optic atrophy
retinitis pigmentosa
ring scotoma (early)
night blindness (infancy and early childhood)
blindness by third decade
more
Abdomen Gastrointestinal:
achalasia
gastrointestinal dysmotility

Muscle Soft Tissue:
distal muscle weakness
neurogenic muscle atrophy

Neurologic Central Nervous System:
delayed walking (1 family)
mental retardation (1 family)

Clinical features from OMIM:

609033

UMLS symptoms related to Posterior Column Ataxia with Retinitis Pigmentosa:


ataxia, ataxia, sensory, loss of proprioception

Drugs & Therapeutics for Posterior Column Ataxia with Retinitis Pigmentosa

Search Clinical Trials , NIH Clinical Center for Posterior Column Ataxia with Retinitis Pigmentosa

Genetic Tests for Posterior Column Ataxia with Retinitis Pigmentosa

Genetic tests related to Posterior Column Ataxia with Retinitis Pigmentosa:

# Genetic test Affiliating Genes
1 Posterior Column Ataxia-Retinitis Pigmentosa Syndrome 29 FLVCR1

Anatomical Context for Posterior Column Ataxia with Retinitis Pigmentosa

MalaCards organs/tissues related to Posterior Column Ataxia with Retinitis Pigmentosa:

40
Spinal Cord, Eye, Bone, Retina, Skeletal Muscle

Publications for Posterior Column Ataxia with Retinitis Pigmentosa

Articles related to Posterior Column Ataxia with Retinitis Pigmentosa:

(show all 23)
# Title Authors PMID Year
1
Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1. 56 6 61
21267618 2011
2
Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa. 61 56 6
21070897 2010
3
Genetic mapping and exome sequencing identify variants associated with five novel diseases. 6 56
22279524 2012
4
Autosomal recessive posterior column ataxia and retinitis pigmentosa. 6 56
9855554 1998
5
An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa. 6 56
9409377 1997
6
Posterior column ataxia and retinitis pigmentosa: a distinct clinical and genetic disorder. 61 56
10830426 2000
7
Posterior column ataxia with retinitis pigmentosa (AXPC1) maps to chromosome 1q31-q32. 61 56
9921862 1999
8
Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene. 61 52
24628582 2015
9
Expression and purification of the heme exporter FLVCR1a. 61
32278001 2020
10
Hereditary Ataxia: A Focus on Heme Metabolism and Fe-S Cluster Biogenesis. 61
32466579 2020
11
Posterior column ataxia with retinitis pigmentosa (PCARP) in an Iranian patient associated with the FLVCR1 gene. 61
32039643 2020
12
Phenotypic spectrum of autosomal recessive retinitis pigmentosa without posterior column ataxia caused by mutations in the FLVCR1 gene. 61
30656474 2019
13
Clinical and imaging characteristics of posterior column ataxia with retinitis pigmentosa with a specific FLVCR1 mutation. 61
30444160 2018
14
Potential Treatment of Retinal Diseases with Iron Chelators. 61
30360383 2018
15
A robust periodic capacitated arc routing problem for urban waste collection considering drivers and crew's working time. 61
29599022 2018
16
A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia. 61
29192808 2018
17
Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation. 61
28766925 2017
18
Heme and FLVCR-related transporter families SLC48 and SLC49. 61
23506900 2013
19
[Present efforts in the medical genome center at the University of Tokyo Hospital]. 61
23475516 2013
20
Mutations of FLVCR1 in posterior column ataxia and retinitis pigmentosa result in the loss of heme export activity. 61
22483575 2012
21
A Memetic Algorithm for Periodic Capacitated Arc Routing Problem. 61
21768050 2011
22
[Next-generation analysis on hereditary neurodegenerative disorders using next-generation sequencers]. 61
22277444 2011
23
Isolation of a novel iris-specific and leucine-rich repeat protein (oculoglycan) using differential selection. 61
10892843 2000

Variations for Posterior Column Ataxia with Retinitis Pigmentosa

ClinVar genetic disease variations for Posterior Column Ataxia with Retinitis Pigmentosa:

6 (show top 50) (show all 219) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FLVCR1 NM_014053.4(FLVCR1):c.361A>G (p.Asn121Asp)SNV Pathogenic 18418 rs267606820 1:213032155-213032155 1:212858813-212858813
2 FLVCR1 NM_014053.4(FLVCR1):c.721G>A (p.Ala241Thr)SNV Pathogenic 18419 rs267606819 1:213032515-213032515 1:212859173-212859173
3 FLVCR1 NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg)SNV Pathogenic 18420 rs267606821 1:213032368-213032368 1:212859026-212859026
4 FLVCR1 NM_014053.4(FLVCR1):c.1477G>C (p.Gly493Arg)SNV Pathogenic 30775 rs1558121050 1:213062551-213062551 1:212889209-212889209
5 FLVCR1 NM_014053.4(FLVCR1):c.755del (p.Gly252fs)deletion Pathogenic/Likely pathogenic 872563 1:213037082-213037082 1:212863740-212863740
6 FLVCR1 NM_014053.4(FLVCR1):c.1092+5G>ASNV Pathogenic/Likely pathogenic 374768 rs556788423 1:213056785-213056785 1:212883443-212883443
7 FLVCR1 NM_014053.4(FLVCR1):c.*2061_*2062CA[12]short repeat Conflicting interpretations of pathogenicity 295373 rs139242973 1:213070691-213070692 1:212897349-212897350
8 FLVCR1 NM_014053.4(FLVCR1):c.937G>A (p.Asp313Asn)SNV Conflicting interpretations of pathogenicity 447352 rs139175550 1:213046073-213046073 1:212872731-212872731
9 FLVCR1 NM_014053.4(FLVCR1):c.1546C>T (p.Arg516Ter)SNV Conflicting interpretations of pathogenicity 488940 rs538343832 1:213068348-213068348 1:212895006-212895006
10 FLVCR1 NM_014053.4(FLVCR1):c.738+9T>CSNV Conflicting interpretations of pathogenicity 295317 rs41296696 1:213032541-213032541 1:212859199-212859199
11 FLVCR1 NM_014053.4(FLVCR1):c.952G>A (p.Glu318Lys)SNV Conflicting interpretations of pathogenicity 295319 rs41297444 1:213046088-213046088 1:212872746-212872746
12 FLVCR1 NM_014053.4(FLVCR1):c.1059G>A (p.Thr353=)SNV Uncertain significance 295322 rs550517136 1:213056747-213056747 1:212883405-212883405
13 FLVCR1 NM_014053.4(FLVCR1):c.1657T>G (p.Ser553Ala)SNV Uncertain significance 295326 rs149887215 1:213068621-213068621 1:212895279-212895279
14 FLVCR1 NM_014053.4(FLVCR1):c.*1739C>TSNV Uncertain significance 295362 rs191112278 1:213070371-213070371 1:212897029-212897029
15 FLVCR1 NM_014053.4(FLVCR1):c.595C>T (p.Leu199Phe)SNV Uncertain significance 295315 rs41296694 1:213032389-213032389 1:212859047-212859047
16 FLVCR1 NM_014053.4(FLVCR1):c.782C>T (p.Pro261Leu)SNV Uncertain significance 295318 rs886045927 1:213037110-213037110 1:212863768-212863768
17 FLVCR1 NM_014053.4(FLVCR1):c.*344T>CSNV Uncertain significance 295333 rs886045930 1:213068976-213068976 1:212895634-212895634
18 FLVCR1 NM_014053.4(FLVCR1):c.*1952C>ASNV Uncertain significance 295370 rs886045938 1:213070584-213070584 1:212897242-212897242
19 FLVCR1 NM_014053.4(FLVCR1):c.*1880_*1883TAAA[10]short repeat Uncertain significance 295366 rs141272551 1:213070509-213070512 1:212897167-212897170
20 FLVCR1 NM_014053.4(FLVCR1):c.*839T>GSNV Uncertain significance 295343 rs886045932 1:213069471-213069471 1:212896129-212896129
21 FLVCR1 NM_014053.4(FLVCR1):c.*1174C>TSNV Uncertain significance 295353 rs886045936 1:213069806-213069806 1:212896464-212896464
22 FLVCR1 NM_014053.4(FLVCR1):c.*1422T>ASNV Uncertain significance 295356 rs138620842 1:213070054-213070054 1:212896712-212896712
23 FLVCR1 NM_014053.4(FLVCR1):c.*1566A>TSNV Uncertain significance 295358 rs113327053 1:213070198-213070198 1:212896856-212896856
24 FLVCR1 NM_014053.4(FLVCR1):c.385A>G (p.Ser129Gly)SNV Uncertain significance 295313 rs781057835 1:213032179-213032179 1:212858837-212858837
25 FLVCR1 NM_014053.4(FLVCR1):c.534G>C (p.Leu178=)SNV Uncertain significance 295314 rs886045925 1:213032328-213032328 1:212858986-212858986
26 FLVCR1 NM_014053.4(FLVCR1):c.962A>G (p.Tyr321Cys)SNV Uncertain significance 295320 rs142749772 1:213046098-213046098 1:212872756-212872756
27 FLVCR1 NM_014053.4(FLVCR1):c.981C>T (p.Asn327=)SNV Uncertain significance 295321 rs886045928 1:213046117-213046117 1:212872775-212872775
28 FLVCR1 NM_014053.4(FLVCR1):c.*384T>CSNV Uncertain significance 295336 rs886045931 1:213069016-213069016 1:212895674-212895674
29 FLVCR1 NM_014053.4(FLVCR1):c.*657A>GSNV Uncertain significance 295339 rs758210046 1:213069289-213069289 1:212895947-212895947
30 FLVCR1 NM_014053.4(FLVCR1):c.*2061_*2062CA[20]short repeat Uncertain significance 295375 rs139242973 1:213070691-213070692 1:212897349-212897350
31 FLVCR1 NM_014053.4(FLVCR1):c.*2164G>ASNV Uncertain significance 295376 rs143656000 1:213070796-213070796 1:212897454-212897454
32 FLVCR1 NM_014053.4(FLVCR1):c.*2371A>GSNV Uncertain significance 295380 rs886045940 1:213071003-213071003 1:212897661-212897661
33 FLVCR1 NM_014053.4(FLVCR1):c.*3260T>CSNV Uncertain significance 295398 rs183392554 1:213071892-213071892 1:212898550-212898550
34 FLVCR1 NM_014053.4(FLVCR1):c.-36G>ASNV Uncertain significance 295310 rs886045922 1:213031759-213031759 1:212858417-212858417
35 FLVCR1 NM_014053.4(FLVCR1):c.42C>T (p.Pro14=)SNV Uncertain significance 295311 rs886045923 1:213031836-213031836 1:212858494-212858494
36 FLVCR1 NM_014053.4(FLVCR1):c.51G>C (p.Pro17=)SNV Uncertain significance 295312 rs886045924 1:213031845-213031845 1:212858503-212858503
37 FLVCR1 NM_014053.4(FLVCR1):c.*8G>ASNV Uncertain significance 295327 rs886045929 1:213068640-213068640 1:212895298-212895298
38 FLVCR1 NM_014053.4(FLVCR1):c.*32T>CSNV Uncertain significance 295328 rs374779364 1:213068664-213068664 1:212895322-212895322
39 FLVCR2 NM_017791.3(FLVCR2):c.998G>A (p.Arg333His)SNV Uncertain significance 191048 rs757778790 14:76100017-76100017 14:75633674-75633674
40 FLVCR1 NM_014053.3(FLVCR1):c.-181A>GSNV Uncertain significance 295306 rs886045921 1:213031614-213031614 1:212858272-212858272
41 FLVCR1 NM_014053.4(FLVCR1):c.611T>G (p.Met204Arg)SNV Uncertain significance 295316 rs886045926 1:213032405-213032405 1:212859063-212859063
42 FLVCR1 NM_014053.4(FLVCR1):c.1521A>G (p.Leu507=)SNV Uncertain significance 295324 rs74607124 1:213062595-213062595 1:212889253-212889253
43 FLVCR1 NM_014053.4(FLVCR1):c.*569C>GSNV Uncertain significance 295337 rs185115842 1:213069201-213069201 1:212895859-212895859
44 FLVCR1 NM_014053.4(FLVCR1):c.*838_*839CT[2]short repeat Uncertain significance 295342 rs549002753 1:213069470-213069471 1:212896128-212896129
45 FLVCR1 NM_014053.4(FLVCR1):c.*855deldeletion Uncertain significance 295345 rs752835859 1:213069475-213069475 1:212896133-212896133
46 FLVCR1 NM_014053.4(FLVCR1):c.*855dupduplication Uncertain significance 295344 rs752835859 1:213069474-213069475 1:212896132-212896133
47 FLVCR1 NM_014053.4(FLVCR1):c.*1880_*1883TAAA[9]short repeat Uncertain significance 295367 rs141272551 1:213070509-213070516 1:212897167-212897174
48 FLVCR1 NM_014053.4(FLVCR1):c.*2218C>TSNV Uncertain significance 295379 rs886045939 1:213070850-213070850 1:212897508-212897508
49 FLVCR1 NM_014053.4(FLVCR1):c.*2672_*2673deldeletion Uncertain significance 295385 rs557446640 1:213071303-213071304 1:212897961-212897962
50 FLVCR1 NM_014053.4(FLVCR1):c.*3228T>CSNV Uncertain significance 295396 rs886045943 1:213071860-213071860 1:212898518-212898518

UniProtKB/Swiss-Prot genetic disease variations for Posterior Column Ataxia with Retinitis Pigmentosa:

73
# Symbol AA change Variation ID SNP ID
1 FLVCR1 p.Asn121Asp VAR_065158 rs267606820
2 FLVCR1 p.Cys192Arg VAR_065159 rs267606821
3 FLVCR1 p.Ala241Thr VAR_065160 rs267606819
4 FLVCR1 p.Gly493Arg VAR_065161

Expression for Posterior Column Ataxia with Retinitis Pigmentosa

Search GEO for disease gene expression data for Posterior Column Ataxia with Retinitis Pigmentosa.

Pathways for Posterior Column Ataxia with Retinitis Pigmentosa

GO Terms for Posterior Column Ataxia with Retinitis Pigmentosa

Sources for Posterior Column Ataxia with Retinitis Pigmentosa

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