CHIME
MCID: CLB017
MIFTS: 33

Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome (CHIME)

Categories: Cardiovascular diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,...

MalaCards integrated aliases for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome:

Name: Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 58
Zunich Neuroectodermal Syndrome 58 54 76 30 6 74
Chime Syndrome 58 54 60 76 38 13
Glycosylphosphatidylinositol Biosynthesis Defect 5 58 76
Gpibd5 58 76
Chime 58 76
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies Syndrome 6
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation and Ear Anomalies Syndrome 76
Coloboma-Congenital Heart Disease-Ichthyosiform Dermatosis-Intellectual Disability-Ear Anomalies Syndrome 60
Congenital Disorder of Glycosylation Due to Pigl Deficiency 60
Glycosylphosphatidylinositol Biosynthesis Defect 5; Gpibd5 58
Neuroectodermal Dysplasia, Chime Type 60
Neuroectodermal Syndrome, Zunich Type 60
Zunich-Kaye Syndrome 60
Chime Syndrome ) 41
Pigl-Cdg 60

Characteristics:

Orphanet epidemiological data:

60
chime syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
wide-based gait
chime is an acronym - ocular colobomas, heart defect, ichthyosiform dermatosis, mental retardation, ear anomalies


HPO:

33
coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,...

OMIM : 58 Zunich neuroectodermal syndrome is an extremely rare autosomal recessive multisystem disorder clinically characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, mental retardation, and ear anomalies (CHIME). Other clinical features include distinctive facial features, abnormal growth, genitourinary abnormalities, seizures, and feeding difficulties (summary by Ng et al., 2012). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293). (280000)

MalaCards based summary : Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome, also known as zunich neuroectodermal syndrome, is related to mucositis and sudden infant death syndrome, and has symptoms including seizures An important gene associated with Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome is PIGL (Phosphatidylinositol Glycan Anchor Biosynthesis Class L), and among its related pathways/superpathways is Glycosylphosphatidylinositol (GPI)-anchor biosynthesis. Affiliated tissues include heart, skin and kidney, and related phenotypes are hypertelorism and ptosis

UniProtKB/Swiss-Prot : 76 Coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation and ear anomalies syndrome: An extremely rare autosomal recessive multisystem disorder clinically characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, mental retardation, and ear anomalies including conductive hearing loss. Other clinical features include distinctive facial features, abnormal growth, genitourinary abnormalities, seizures, and feeding difficulties.

Related Diseases for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,...

Diseases related to Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mucositis 10.3
2 sudden infant death syndrome 10.2
3 spondylocarpotarsal synostosis syndrome 10.0
4 leukemia, acute lymphoblastic 10.0
5 leukemia 10.0
6 lymphocytic leukemia 10.0

Graphical network of the top 20 diseases related to Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome:



Diseases related to Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome

Symptoms & Phenotypes for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,...

Human phenotypes related to Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome:

60 33 (show top 50) (show all 82)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
2 ptosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000508
3 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
4 hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000365
5 thick vermilion border 60 33 hallmark (90%) Very frequent (99-80%) HP:0012471
6 ichthyosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0008064
7 brachycephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000248
8 strabismus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000486
9 epicanthus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000286
10 microdontia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000691
11 aplasia/hypoplasia of the nipples 60 33 hallmark (90%) Very frequent (99-80%) HP:0006709
12 abnormal dermatoglyphics 60 33 hallmark (90%) Very frequent (99-80%) HP:0007477
13 short philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000322
14 depressed nasal ridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000457
15 erythema 60 33 hallmark (90%) Very frequent (99-80%) HP:0010783
16 hypodontia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000668
17 tall stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0000098
18 retinal coloboma 60 33 hallmark (90%) Very frequent (99-80%) HP:0000480
19 abnormality of the outer ear 60 33 hallmark (90%) Very frequent (99-80%) HP:0000356
20 abnormality of epiphysis morphology 60 33 frequent (33%) Frequent (79-30%) HP:0005930
21 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
22 corneal opacity 60 33 frequent (33%) Frequent (79-30%) HP:0007957
23 cleft palate 60 33 frequent (33%) Frequent (79-30%) HP:0000175
24 short palm 60 33 frequent (33%) Frequent (79-30%) HP:0004279
25 short foot 60 33 frequent (33%) Frequent (79-30%) HP:0001773
26 increased number of teeth 60 33 frequent (33%) Frequent (79-30%) HP:0011069
27 upslanted palpebral fissure 60 33 frequent (33%) Frequent (79-30%) HP:0000582
28 tetralogy of fallot 60 33 frequent (33%) Frequent (79-30%) HP:0001636
29 transposition of the great arteries 60 33 frequent (33%) Frequent (79-30%) HP:0001669
30 aplasia/hypoplasia of the phalanges of the hand 60 33 frequent (33%) Frequent (79-30%) HP:0009767
31 aplasia/hypoplasia of the phalanges of the toes 60 33 frequent (33%) Frequent (79-30%) HP:0010173
32 pulmonary valve atresia 60 33 frequent (33%) Frequent (79-30%) HP:0010882
33 aplastic clavicle 33 frequent (33%) HP:0006660
34 hyperkeratosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000962
35 autism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000717
36 skin ulcer 60 33 occasional (7.5%) Occasional (29-5%) HP:0200042
37 cerebral cortical atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0002120
38 hip dislocation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002827
39 hypotrichosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001006
40 ventricular septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001629
41 fine hair 60 33 occasional (7.5%) Occasional (29-5%) HP:0002213
42 acute leukemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002488
43 clubbing of toes 60 33 occasional (7.5%) Occasional (29-5%) HP:0100760
44 osteolysis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002797
45 hydronephrosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000126
46 acute lymphoblastic leukemia 33 very rare (1%) HP:0006721
47 frontal bossing 33 HP:0002007
48 muscular hypotonia 33 HP:0001252
49 widely spaced teeth 33 HP:0000687
50 depressed nasal bridge 33 HP:0005280

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
retinal coloboma
epicanthal folds

Head And Neck Teeth:
widely spaced teeth
bifid incisor

Head And Neck Face:
prominent forehead
short philtrum

Head And Neck Neck:
webbed neck

Genitourinary Ureters:
ureteropelvic junction obstruction

Skeletal Hands:
large hands
thickened palms
fifth finger clinodactyly/camptodactyly

Neurologic Behavioral Psychiatric Manifestations:
violent behavior
self-abusive behavior

Head And Neck Ears:
conductive hearing loss
overfolded helices

Head And Neck Nose:
broad, flat nasal bridge

Skeletal Skull:
flattened occiput

Growth Weight:
birth weight > 90th percentile

Neoplasia:
acute lymphoblastic leukemia (in 1 patient)

Neurologic Central Nervous System:
seizures
cerebral atrophy
hypotonia
mental retardation

Head And Neck Head:
brachycephaly

Head And Neck Mouth:
cleft palate
wide mouth
full lips

Cardiovascular Heart:
tetralogy of fallot
ventricular septal defect
peripheral pulmonic stenosis

Genitourinary Kidneys:
hydronephrosis
duplicated renal collecting system

Skin Nails Hair Hair:
sparse hair
light, fine hair

Chest Breasts:
low-set nipples
small nipples

Skeletal Feet:
large feet
thickened soles
broad second toes

Cardiovascular Vascular:
transposition of great vessels

Growth Height:
birth length > 90th percentile

Skin Nails Hair Skin:
migratory ichthyosiform dermatosis
thickened palms and soles

Clinical features from OMIM:

280000

UMLS symptoms related to Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome:


seizures

Drugs & Therapeutics for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,...

Search Clinical Trials , NIH Clinical Center for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome

Genetic Tests for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,...

Genetic tests related to Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome:

# Genetic test Affiliating Genes
1 Zunich Neuroectodermal Syndrome 30 PIGL

Anatomical Context for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,...

MalaCards organs/tissues related to Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome:

42
Heart, Skin, Kidney, Eye

Publications for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,...

Articles related to Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome:

# Title Authors Year
1
Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. ( 22444671 )
2012
2
Zunich neuroectodermal syndrome: migratory ichthyosiform dermatosis, colobomas, and other abnormalities. ( 8893234 )
1996
3
Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases. ( 7666399 )
1995
4
Autosomal recessive transmission of neuroectodermal syndrome. ( 3041916 )
1988

Variations for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,...

UniProtKB/Swiss-Prot genetic disease variations for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome:

76
# Symbol AA change Variation ID SNP ID
1 PIGL p.Leu167Pro VAR_068221 rs145303331

ClinVar genetic disease variations for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome:

6 (show top 50) (show all 64)
# Gene Variation Type Significance SNP ID Assembly Location
1 PIGL NM_004278.3(PIGL): c.500T> C (p.Leu167Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs145303331 GRCh37 Chromosome 17, 16220000: 16220000
2 PIGL NM_004278.3(PIGL): c.500T> C (p.Leu167Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs145303331 GRCh38 Chromosome 17, 16316686: 16316686
3 PIGL NM_004278.3(PIGL): c.274delC (p.Leu92Phefs) deletion Pathogenic GRCh37 Chromosome 17, 16137323: 16137323
4 PIGL NM_004278.3(PIGL): c.274delC (p.Leu92Phefs) deletion Pathogenic GRCh38 Chromosome 17, 16234009: 16234009
5 PIGL NM_004278.3(PIGL): c.652C> T (p.Gln218Ter) single nucleotide variant Pathogenic rs139004722 GRCh37 Chromosome 17, 16221214: 16221214
6 PIGL NM_004278.3(PIGL): c.652C> T (p.Gln218Ter) single nucleotide variant Pathogenic rs139004722 GRCh38 Chromosome 17, 16317900: 16317900
7 PIGL NM_004278.3(PIGL): c.427-1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 17, 16313546: 16313546
8 PIGL NM_004278.3(PIGL): c.427-1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 17, 16216860: 16216860
9 PIGL NM_004278.3(PIGL): c.4G> A (p.Glu2Lys) single nucleotide variant Uncertain significance rs150000731 GRCh37 Chromosome 17, 16120544: 16120544
10 PIGL NM_004278.3(PIGL): c.4G> A (p.Glu2Lys) single nucleotide variant Uncertain significance rs150000731 GRCh38 Chromosome 17, 16217230: 16217230
11 PIGL NM_004278.3(PIGL): c.30G> T (p.Ala10=) single nucleotide variant Uncertain significance rs147669920 GRCh37 Chromosome 17, 16120570: 16120570
12 PIGL NM_004278.3(PIGL): c.30G> T (p.Ala10=) single nucleotide variant Uncertain significance rs147669920 GRCh38 Chromosome 17, 16217256: 16217256
13 PIGL NM_004278.3(PIGL): c.169T> C (p.Phe57Leu) single nucleotide variant Uncertain significance rs587784324 GRCh37 Chromosome 17, 16120709: 16120709
14 PIGL NM_004278.3(PIGL): c.169T> C (p.Phe57Leu) single nucleotide variant Uncertain significance rs587784324 GRCh38 Chromosome 17, 16217395: 16217395
15 PIGL NM_004278.3(PIGL): c.337G> T (p.Asp113Tyr) single nucleotide variant Uncertain significance rs114670807 GRCh37 Chromosome 17, 16203203: 16203203
16 PIGL NM_004278.3(PIGL): c.337G> T (p.Asp113Tyr) single nucleotide variant Uncertain significance rs114670807 GRCh38 Chromosome 17, 16299889: 16299889
17 PIGL NM_004278.3(PIGL): c.354A> G (p.Pro118=) single nucleotide variant Uncertain significance rs149094276 GRCh37 Chromosome 17, 16203220: 16203220
18 PIGL NM_004278.3(PIGL): c.354A> G (p.Pro118=) single nucleotide variant Uncertain significance rs149094276 GRCh38 Chromosome 17, 16299906: 16299906
19 PIGL NM_004278.3(PIGL): c.424C> A (p.Leu142Met) single nucleotide variant Conflicting interpretations of pathogenicity rs115958467 GRCh37 Chromosome 17, 16203290: 16203290
20 PIGL NM_004278.3(PIGL): c.424C> A (p.Leu142Met) single nucleotide variant Conflicting interpretations of pathogenicity rs115958467 GRCh38 Chromosome 17, 16299976: 16299976
21 PIGL NM_004278.3(PIGL): c.426+8G> A single nucleotide variant Uncertain significance rs145914582 GRCh37 Chromosome 17, 16203300: 16203300
22 PIGL NM_004278.3(PIGL): c.426+8G> A single nucleotide variant Uncertain significance rs145914582 GRCh38 Chromosome 17, 16299986: 16299986
23 PIGL NM_004278.3(PIGL): c.426+14T> C single nucleotide variant Uncertain significance rs138467285 GRCh37 Chromosome 17, 16203306: 16203306
24 PIGL NM_004278.3(PIGL): c.426+14T> C single nucleotide variant Uncertain significance rs138467285 GRCh38 Chromosome 17, 16299992: 16299992
25 PIGL NM_004278.3(PIGL): c.439G> A (p.Asp147Asn) single nucleotide variant Uncertain significance rs148238492 GRCh37 Chromosome 17, 16216873: 16216873
26 PIGL NM_004278.3(PIGL): c.439G> A (p.Asp147Asn) single nucleotide variant Uncertain significance rs148238492 GRCh38 Chromosome 17, 16313559: 16313559
27 PIGL NM_004278.3(PIGL): c.480G> A (p.Leu160=) single nucleotide variant Uncertain significance rs114697377 GRCh37 Chromosome 17, 16216914: 16216914
28 PIGL NM_004278.3(PIGL): c.480G> A (p.Leu160=) single nucleotide variant Uncertain significance rs114697377 GRCh38 Chromosome 17, 16313600: 16313600
29 PIGL NM_004278.3(PIGL): c.493A> C (p.Arg165=) single nucleotide variant Uncertain significance rs184077858 GRCh37 Chromosome 17, 16216927: 16216927
30 PIGL NM_004278.3(PIGL): c.493A> C (p.Arg165=) single nucleotide variant Uncertain significance rs184077858 GRCh38 Chromosome 17, 16313613: 16313613
31 PIGL NM_004278.3(PIGL): c.526+10G> A single nucleotide variant Uncertain significance rs138410893 GRCh37 Chromosome 17, 16220036: 16220036
32 PIGL NM_004278.3(PIGL): c.526+10G> A single nucleotide variant Uncertain significance rs138410893 GRCh38 Chromosome 17, 16316722: 16316722
33 PIGL NM_004278.3(PIGL): c.534T> C (p.Ser178=) single nucleotide variant Uncertain significance rs114145762 GRCh37 Chromosome 17, 16221096: 16221096
34 PIGL NM_004278.3(PIGL): c.534T> C (p.Ser178=) single nucleotide variant Uncertain significance rs114145762 GRCh38 Chromosome 17, 16317782: 16317782
35 PIGL NM_004278.3(PIGL): c.535G> A (p.Val179Met) single nucleotide variant Uncertain significance rs116591352 GRCh37 Chromosome 17, 16221097: 16221097
36 PIGL NM_004278.3(PIGL): c.535G> A (p.Val179Met) single nucleotide variant Uncertain significance rs116591352 GRCh38 Chromosome 17, 16317783: 16317783
37 PIGL NM_004278.3(PIGL): c.540C> T (p.Leu180=) single nucleotide variant Uncertain significance rs115695383 GRCh37 Chromosome 17, 16221102: 16221102
38 PIGL NM_004278.3(PIGL): c.540C> T (p.Leu180=) single nucleotide variant Uncertain significance rs115695383 GRCh38 Chromosome 17, 16317788: 16317788
39 PIGL NM_004278.3(PIGL): c.595T> C (p.Leu199=) single nucleotide variant Uncertain significance rs114176862 GRCh37 Chromosome 17, 16221157: 16221157
40 PIGL NM_004278.3(PIGL): c.595T> C (p.Leu199=) single nucleotide variant Uncertain significance rs114176862 GRCh38 Chromosome 17, 16317843: 16317843
41 PIGL NM_004278.3(PIGL): c.627C> T (p.Phe209=) single nucleotide variant Uncertain significance rs146164310 GRCh37 Chromosome 17, 16221189: 16221189
42 PIGL NM_004278.3(PIGL): c.627C> T (p.Phe209=) single nucleotide variant Uncertain significance rs146164310 GRCh38 Chromosome 17, 16317875: 16317875
43 PIGL NM_004278.3(PIGL): c.652C> G (p.Gln218Glu) single nucleotide variant Uncertain significance rs139004722 GRCh37 Chromosome 17, 16221214: 16221214
44 PIGL NM_004278.3(PIGL): c.652C> G (p.Gln218Glu) single nucleotide variant Uncertain significance rs139004722 GRCh38 Chromosome 17, 16317900: 16317900
45 PIGL NM_004278.3(PIGL): c.*86A> G single nucleotide variant Likely benign rs2302314 GRCh38 Chromosome 17, 16325984: 16325984
46 PIGL NM_004278.3(PIGL): c.*86A> G single nucleotide variant Likely benign rs2302314 GRCh37 Chromosome 17, 16229298: 16229298
47 PIGL NM_004278.3(PIGL): c.*185A> C single nucleotide variant Uncertain significance rs886052644 GRCh38 Chromosome 17, 16326083: 16326083
48 PIGL NM_004278.3(PIGL): c.*185A> C single nucleotide variant Uncertain significance rs886052644 GRCh37 Chromosome 17, 16229397: 16229397
49 PIGL NM_004278.3(PIGL): c.420C> T (p.Ile140=) single nucleotide variant Uncertain significance rs374713933 GRCh38 Chromosome 17, 16299972: 16299972
50 PIGL NM_004278.3(PIGL): c.420C> T (p.Ile140=) single nucleotide variant Uncertain significance rs374713933 GRCh37 Chromosome 17, 16203286: 16203286

Expression for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,...

Search GEO for disease gene expression data for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome.

Pathways for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,...

Pathways related to Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome according to KEGG:

38
# Name Kegg Source Accession
1 Glycosylphosphatidylinositol (GPI)-anchor biosynthesis hsa00563

GO Terms for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,...

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