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CHIME
MCID: CLB017
MIFTS: 32

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
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,...

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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 57
Zunich Neuroectodermal Syndrome 57 53 75 29 6 73
Chime Syndrome 57 53 59 75 37 13
Glycosylphosphatidylinositol Biosynthesis Defect 5 57 75
Gpibd5 57 75
Chime 57 75
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 75
Coloboma-Congenital Heart Disease-Ichthyosiform Dermatosis-Intellectual Disability-Ear Anomalies Syndrome 59
Congenital Disorder of Glycosylation Due to Pigl Deficiency 59
Glycosylphosphatidylinositol Biosynthesis Defect 5; Gpibd5 57
Neuroectodermal Dysplasia, Chime Type 59
Neuroectodermal Syndrome, Zunich Type 59
Zunich-Kaye Syndrome 59
Chime Syndrome ) 40
Pigl-Cdg 59

Characteristics:

Orphanet epidemiological data:

59
chime syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Cardiovascular diseases Ear diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases
Rare eye diseases
Rare cardiac malformations
Rare otorhinolaryngological diseases
Rare skin diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


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

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OMIM : 57 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 spondylocarpotarsal synostosis syndrome and leukemia, acute lymphoblastic, 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 abnormality of epiphysis morphology

UniProtKB/Swiss-Prot : 75 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.

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

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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 spondylocarpotarsal synostosis syndrome 10.0
2 leukemia, acute lymphoblastic 10.0
3 leukemia 10.0
4 mucositis 10.0
5 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
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Symptoms & Phenotypes for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,...

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Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show top 50) (show all 78)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 abnormality of epiphysis morphology 59 32 frequent (33%) Frequent (79-30%) HP:0005930
3 ptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000508
4 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
5 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
6 hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000365
7 corneal opacity 59 32 frequent (33%) Frequent (79-30%) HP:0007957
8 thick vermilion border 59 32 hallmark (90%) Very frequent (99-80%) HP:0012471
9 ichthyosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008064
10 brachycephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000248
11 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
12 hyperkeratosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000962
13 strabismus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000486
14 short palm 59 32 frequent (33%) Frequent (79-30%) HP:0004279
15 epicanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000286
16 short foot 59 32 frequent (33%) Frequent (79-30%) HP:0001773
17 microdontia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000691
18 autism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000717
19 aplasia/hypoplasia of the nipples 59 32 hallmark (90%) Very frequent (99-80%) HP:0006709
20 abnormal dermatoglyphics 59 32 hallmark (90%) Very frequent (99-80%) HP:0007477
21 skin ulcer 59 32 occasional (7.5%) Occasional (29-5%) HP:0200042
22 cerebral cortical atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002120
23 hip dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002827
24 short philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000322
25 depressed nasal ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000457
26 increased number of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0011069
27 upslanted palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0000582
28 hypotrichosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001006
29 tetralogy of fallot 59 32 frequent (33%) Frequent (79-30%) HP:0001636
30 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
31 fine hair 59 32 occasional (7.5%) Occasional (29-5%) HP:0002213
32 erythema 59 32 hallmark (90%) Very frequent (99-80%) HP:0010783
33 acute leukemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002488
34 hypodontia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000668
35 clubbing of toes 59 32 occasional (7.5%) Occasional (29-5%) HP:0100760
36 osteolysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002797
37 hydronephrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000126
38 tall stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0000098
39 transposition of the great arteries 59 32 frequent (33%) Frequent (79-30%) HP:0001669
40 aplasia/hypoplasia of the phalanges of the hand 59 32 frequent (33%) Frequent (79-30%) HP:0009767
41 aplasia/hypoplasia of the phalanges of the toes 59 32 frequent (33%) Frequent (79-30%) HP:0010173
42 retinal coloboma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000480
43 abnormality of the outer ear 59 32 hallmark (90%) Very frequent (99-80%) HP:0000356
44 pulmonary valve atresia 59 32 frequent (33%) Frequent (79-30%) HP:0010882
45 frontal bossing 32 HP:0002007
46 muscular hypotonia 32 HP:0001252
47 widely spaced teeth 32 HP:0000687
48 depressed nasal bridge 32 HP:0005280
49 abnormality of the dentition 59 Very frequent (99-80%)
50 wide nasal bridge 32 HP:0000431

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


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

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

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

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

# Genetic test Affiliating Genes
1 Zunich Neuroectodermal Syndrome 29 PIGL
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Anatomical Context for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,...

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

41
Heart, Skin, Kidney, Eye
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Publications for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,...

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

# Title Authors Year
1
Zunich neuroectodermal syndrome: migratory ichthyosiform dermatosis, colobomas, and other abnormalities. ( 8893234 )
1996
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Variations for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,...

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

75
# 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 65)
# 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: c.274delC deletion Pathogenic
4 PIGL NM_004278.3(PIGL): c.652C> T (p.Gln218Ter) single nucleotide variant Pathogenic rs139004722 GRCh37 Chromosome 17, 16221214: 16221214
5 PIGL NM_004278.3(PIGL): c.652C> T (p.Gln218Ter) single nucleotide variant Pathogenic rs139004722 GRCh38 Chromosome 17, 16317900: 16317900
6 PIGL NM_004278.3(PIGL): c.427-1G> A single nucleotide variant Pathogenic rs770084126 GRCh38 Chromosome 17, 16313546: 16313546
7 PIGL NM_004278.3(PIGL): c.427-1G> A single nucleotide variant Pathogenic rs770084126 GRCh37 Chromosome 17, 16216860: 16216860
8 PIGL NM_004278.3(PIGL): c.4G> A (p.Glu2Lys) single nucleotide variant Uncertain significance rs150000731 GRCh37 Chromosome 17, 16120544: 16120544
9 PIGL NM_004278.3(PIGL): c.4G> A (p.Glu2Lys) single nucleotide variant Uncertain significance rs150000731 GRCh38 Chromosome 17, 16217230: 16217230
10 PIGL NM_004278.3(PIGL): c.30G> T (p.Ala10=) single nucleotide variant Uncertain significance rs147669920 GRCh37 Chromosome 17, 16120570: 16120570
11 PIGL NM_004278.3(PIGL): c.30G> T (p.Ala10=) single nucleotide variant Uncertain significance rs147669920 GRCh38 Chromosome 17, 16217256: 16217256
12 PIGL NM_004278.3(PIGL): c.169T> C (p.Phe57Leu) single nucleotide variant Uncertain significance rs587784324 GRCh37 Chromosome 17, 16120709: 16120709
13 PIGL NM_004278.3(PIGL): c.169T> C (p.Phe57Leu) single nucleotide variant Uncertain significance rs587784324 GRCh38 Chromosome 17, 16217395: 16217395
14 PIGL NM_004278.3(PIGL): c.337G> T (p.Asp113Tyr) single nucleotide variant Uncertain significance rs114670807 GRCh37 Chromosome 17, 16203203: 16203203
15 PIGL NM_004278.3(PIGL): c.337G> T (p.Asp113Tyr) single nucleotide variant Uncertain significance rs114670807 GRCh38 Chromosome 17, 16299889: 16299889
16 PIGL NM_004278.3(PIGL): c.354A> G (p.Pro118=) single nucleotide variant Uncertain significance rs149094276 GRCh37 Chromosome 17, 16203220: 16203220
17 PIGL NM_004278.3(PIGL): c.354A> G (p.Pro118=) single nucleotide variant Uncertain significance rs149094276 GRCh38 Chromosome 17, 16299906: 16299906
18 PIGL NM_004278.3(PIGL): c.424C> A (p.Leu142Met) single nucleotide variant Conflicting interpretations of pathogenicity rs115958467 GRCh37 Chromosome 17, 16203290: 16203290
19 PIGL NM_004278.3(PIGL): c.424C> A (p.Leu142Met) single nucleotide variant Conflicting interpretations of pathogenicity rs115958467 GRCh38 Chromosome 17, 16299976: 16299976
20 PIGL NM_004278.3(PIGL): c.426+8G> A single nucleotide variant Uncertain significance rs145914582 GRCh37 Chromosome 17, 16203300: 16203300
21 PIGL NM_004278.3(PIGL): c.426+8G> A single nucleotide variant Uncertain significance rs145914582 GRCh38 Chromosome 17, 16299986: 16299986
22 PIGL NM_004278.3(PIGL): c.426+14T> C single nucleotide variant Uncertain significance rs138467285 GRCh37 Chromosome 17, 16203306: 16203306
23 PIGL NM_004278.3(PIGL): c.426+14T> C single nucleotide variant Uncertain significance rs138467285 GRCh38 Chromosome 17, 16299992: 16299992
24 PIGL NM_004278.3(PIGL): c.439G> A (p.Asp147Asn) single nucleotide variant Uncertain significance rs148238492 GRCh37 Chromosome 17, 16216873: 16216873
25 PIGL NM_004278.3(PIGL): c.439G> A (p.Asp147Asn) single nucleotide variant Uncertain significance rs148238492 GRCh38 Chromosome 17, 16313559: 16313559
26 PIGL NM_004278.3(PIGL): c.480G> A (p.Leu160=) single nucleotide variant Uncertain significance rs114697377 GRCh37 Chromosome 17, 16216914: 16216914
27 PIGL NM_004278.3(PIGL): c.480G> A (p.Leu160=) single nucleotide variant Uncertain significance rs114697377 GRCh38 Chromosome 17, 16313600: 16313600
28 PIGL NM_004278.3(PIGL): c.493A> C (p.Arg165=) single nucleotide variant Uncertain significance rs184077858 GRCh37 Chromosome 17, 16216927: 16216927
29 PIGL NM_004278.3(PIGL): c.493A> C (p.Arg165=) single nucleotide variant Uncertain significance rs184077858 GRCh38 Chromosome 17, 16313613: 16313613
30 PIGL NM_004278.3(PIGL): c.526+10G> A single nucleotide variant Uncertain significance rs138410893 GRCh37 Chromosome 17, 16220036: 16220036
31 PIGL NM_004278.3(PIGL): c.526+10G> A single nucleotide variant Uncertain significance rs138410893 GRCh38 Chromosome 17, 16316722: 16316722
32 PIGL NM_004278.3(PIGL): c.534T> C (p.Ser178=) single nucleotide variant Uncertain significance rs114145762 GRCh37 Chromosome 17, 16221096: 16221096
33 PIGL NM_004278.3(PIGL): c.534T> C (p.Ser178=) single nucleotide variant Uncertain significance rs114145762 GRCh38 Chromosome 17, 16317782: 16317782
34 PIGL NM_004278.3(PIGL): c.535G> A (p.Val179Met) single nucleotide variant Uncertain significance rs116591352 GRCh37 Chromosome 17, 16221097: 16221097
35 PIGL NM_004278.3(PIGL): c.535G> A (p.Val179Met) single nucleotide variant Uncertain significance rs116591352 GRCh38 Chromosome 17, 16317783: 16317783
36 PIGL NM_004278.3(PIGL): c.540C> T (p.Leu180=) single nucleotide variant Uncertain significance rs115695383 GRCh37 Chromosome 17, 16221102: 16221102
37 PIGL NM_004278.3(PIGL): c.540C> T (p.Leu180=) single nucleotide variant Uncertain significance rs115695383 GRCh38 Chromosome 17, 16317788: 16317788
38 PIGL NM_004278.3(PIGL): c.595T> C (p.Leu199=) single nucleotide variant Uncertain significance rs114176862 GRCh37 Chromosome 17, 16221157: 16221157
39 PIGL NM_004278.3(PIGL): c.595T> C (p.Leu199=) single nucleotide variant Uncertain significance rs114176862 GRCh38 Chromosome 17, 16317843: 16317843
40 PIGL NM_004278.3(PIGL): c.627C> T (p.Phe209=) single nucleotide variant Uncertain significance rs146164310 GRCh37 Chromosome 17, 16221189: 16221189
41 PIGL NM_004278.3(PIGL): c.627C> T (p.Phe209=) single nucleotide variant Uncertain significance rs146164310 GRCh38 Chromosome 17, 16317875: 16317875
42 PIGL NM_004278.3(PIGL): c.652C> G (p.Gln218Glu) single nucleotide variant Uncertain significance rs139004722 GRCh37 Chromosome 17, 16221214: 16221214
43 PIGL NM_004278.3(PIGL): c.652C> G (p.Gln218Glu) single nucleotide variant Uncertain significance rs139004722 GRCh38 Chromosome 17, 16317900: 16317900
44 PIGL NM_004278.3(PIGL): c.*86A> G single nucleotide variant Likely benign rs2302314 GRCh38 Chromosome 17, 16325984: 16325984
45 PIGL NM_004278.3(PIGL): c.*86A> G single nucleotide variant Likely benign rs2302314 GRCh37 Chromosome 17, 16229298: 16229298
46 PIGL NM_004278.3(PIGL): c.*185A> C single nucleotide variant Uncertain significance rs886052644 GRCh38 Chromosome 17, 16326083: 16326083
47 PIGL NM_004278.3(PIGL): c.*185A> C single nucleotide variant Uncertain significance rs886052644 GRCh37 Chromosome 17, 16229397: 16229397
48 PIGL NM_004278.3(PIGL): c.420C> T (p.Ile140=) single nucleotide variant Uncertain significance rs374713933 GRCh38 Chromosome 17, 16299972: 16299972
49 PIGL NM_004278.3(PIGL): c.420C> T (p.Ile140=) single nucleotide variant Uncertain significance rs374713933 GRCh37 Chromosome 17, 16203286: 16203286
50 PIGL NM_004278.3(PIGL): c.446G> C (p.Gly149Ala) single nucleotide variant Uncertain significance rs140211194 GRCh38 Chromosome 17, 16313566: 16313566
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Expression for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,...

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

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

37
# Name Kegg Source Accession
1 Glycosylphosphatidylinositol (GPI)-anchor biosynthesis hsa00563
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GO Terms for Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,...

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

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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