MCID: RTS003
MIFTS: 36

Ritscher-Schinzel Syndrome 1

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

Aliases & Classifications for Ritscher-Schinzel Syndrome 1

MalaCards integrated aliases for Ritscher-Schinzel Syndrome 1:

Name: Ritscher-Schinzel Syndrome 1 57 12 75
3c Syndrome 57 76 53 59 75 37 73
Dandy-Walker Like Malformation with Atrioventricular Septal Defect 53 29 6 40
Craniocerebellocardiac Dysplasia 57 53 59 75
Dandy-Walker-Like Malformation with Atrioventricular Septal Defect 57 75
Rtsc1 57 75
Ritscher-Schinzel Cranio-Cerebello-Cardiac Syndrome 53
Dandy-Walker-Like Malformation with Asd 53
Cranio-Cerebello-Cardiac Dysplasia 53
Ritscher-Schinzel Syndrome 59
Ritscher Schinzel Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
3c syndrome
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Infancy,Neonatal; Age of death: early childhood,infantile;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
ritscher-schinzel syndrome 1:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ritscher-Schinzel Syndrome 1

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 7Disease definitionCranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies (see these terms).EpidemiologyTo date Clinical description3C syndrome is a congenital disorder characterized by distinctive craniofacial features including, in decreasing frequency, low-set ears, hypertelorism, down-slanting palpebral fissures, depressed nasal bridge, prominent occiput, prominent forehead, cleft palate, micrognathia, ocular coloboma. Additional craniofacial features encompass nevus flammeus (on forehead), low posterior hairline, sparse scalp hair, eyebrows and eyelashes, open mouth with protruding tongue, and short neck. In 80% of cases, cerebellar anomalies are present and include primarily Dandy-Walker malformation or Dandy-Walker variant, cerebellar vermis hypoplasia and enlargement of cisterna magma. Affected individuals have gross motor and speech delay and intellectual disability. The cardiovascular anomalies include atrial and ventricular septal defects, patent arterial duct, tetralogy of Fallot, double outlet right ventricle, hypoplastic left heart syndrome (see these terms), aortic or pulmonary stenosis, and other valvular anomalies. Postnatal short stature is noted in most patients, and growth hormone deficiency has been reported in two patients. Additional anomalies, noted in >10% of patients, include feeding difficulties, single umbilical artery, small hands with single transverse crease, camptodactyly, equinovarus deformity, hydronephrosis, shallow scrotum, undescended testis, cryptorchidism, micropenis, hypospadias, nail hypoplasia, hearing loss, malrotation of the gut. Skeletal defects may be present with rib and vertebral anomalies (hemivertebrae). Rarely observed features include ocular (congenital glaucoma, optic nerve atrophy with eyelid ptosis, heteochromatic iris, posterior embryotoxon), renal (multicystic dysplastic kidney, horseshoe kidneys, unilateral renal agenesis) and anal (anal atresia, anteriorly placed anus malformations) anomalies. Single occurrences of renal hypoplasia, nipple hypoplasia, penile hypoplasia, unilateral adrenal aplasia, immunodeficiency have also been reported.EtiologyThe exact etiology is still unknown but mutations in KIAA0196 (8q24.13; coding for strumpellin) have been identified in a First Nations cohort and these mutations may be involved in the pathophysiology of 3C syndrome.Diagnostic methodsThe diagnostic criteria for 3C syndrome include congenital heart malformation(s) other than isolated patent arterial duct; Dandy-Walker malformation, cerebellar vermis hypoplasia, or enlarged cisterna; and cleft palate, ocular coloboma or four of the following: prominent occiput, prominent forehead, hypertelorism, micrognathia, downslanting palpebral fissures, depressed nasal bridge, low-set ears.Differential diagnosisDifferential diagnosis includes Joubert syndrome, Ellis Van Creveld syndrome, Cornelia de Lange syndrome, distal monosomy 6p (see these terms) and Dandy Walker malformation.Antenatal diagnosisPrenatal diagnosis may be suspected after an ultrasound examination revealing characteristic major structural anomalies of 3C syndrome. Prenatal testing is available for families in which the disease-causing mutations have been previously identified.Genetic counselingSporadic and familial cases have been reported. Transmission is autosomal recessive. Phenotypic variability exists between siblings.Management and treatmentManagement is mainly symptomatic and multidisciplinary approaches including educational programs, physical, occupational, and speech therapy may help to improve hypotonia and reduce motor developmental delay. Cardiac malformation requires specific care, often surgery.PrognosisPrognosis is determined by the cardiovascular malformation. Motor delay is common and associated with hypotonia secondary to cerebellar anomalies.Visit the Orphanet disease page for more resources.

MalaCards based summary : Ritscher-Schinzel Syndrome 1, also known as 3c syndrome, is related to ritscher-schinzel syndrome and ritscher-schinzel syndrome 2. An important gene associated with Ritscher-Schinzel Syndrome 1 is WASHC5 (WASH Complex Subunit 5). Affiliated tissues include heart, brain and kidney, and related phenotypes are macrocephaly and hypertelorism

OMIM : 57 The 3C syndrome, also known as Ritscher-Schinzel syndrome, is a developmental malformation syndrome characterized by craniofacial abnormalities, congenital heart defects, and cerebellar brain malformations. Facial features include prominent occiput, prominent forehead, low-set ears, downslanting palpebral fissures, depressed nasal bridge, and micrognathia. Cardiac defects can include septal defects and aortic stenosis, among others, and brain imaging shows Dandy-Walker malformation, cerebellar vermis hypoplasia, posterior fossa cysts, and ventricular dilatation. Affected individuals have severe developmental delay (summary by Leonardi et al., 2001; Seidahmed et al., 2011). (220210)

UniProtKB/Swiss-Prot : 75 Ritscher-Schinzel syndrome 1: A developmental malformation syndrome characterized by craniofacial abnormalities, congenital heart defects, and cerebellar brain malformations. Facial features include prominent occiput, prominent forehead, low-set ears, downslanting palpebral fissures, depressed nasal bridge, and micrognathia. Cardiac defects can include septal defects and aortic stenosis, among others, and brain imaging shows Dandy-Walker malformation, cerebellar vermis hypoplasia, posterior fossa cysts, and ventricular dilatation. Affected individuals have severe developmental delay.

Disease Ontology : 12 A Ritscher-Schinzel syndrome that has material basis in homozygous mutation in the KIAA0196 gene on chromosome 8q24.

Wikipedia : 76 3C syndrome, also known as CCC dysplasia, Craniocerebellocardiac dysplasia or Ritscher–Schinzel... more...

Related Diseases for Ritscher-Schinzel Syndrome 1

Diseases in the Ritscher-Schinzel Syndrome family:

Ritscher-Schinzel Syndrome 1 Ritscher-Schinzel Syndrome 2

Diseases related to Ritscher-Schinzel Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ritscher-schinzel syndrome 30.0 CCDC22 WASHC5
2 ritscher-schinzel syndrome 2 11.0

Symptoms & Phenotypes for Ritscher-Schinzel Syndrome 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
coloboma
downslanting palpebral fissures

Neurologic Central Nervous System:
hydrocephalus
dandy-walker malformation
cerebellar vermis hypoplasia
hypotonia
delayed psychomotor development
more
Head And Neck Head:
brachycephaly
prominent occiput

Head And Neck Face:
micrognathia
tall, broad forehead

Skin Nails Hair Hair:
low posterior hairline

Genitourinary External Genitalia Male:
hypospadias

Skeletal Spine:
hemivertebrae

Prenatal Manifestations Placenta And Umbilical Cord:
single umbilical artery

Skeletal Hands:
syndactyly

Head And Neck Ears:
low-set ears

Head And Neck Nose:
depressed nasal bridge

Head And Neck Mouth:
cleft palate

Growth Other:
intrauterine growth retardation

Cardiovascular Heart:
atrial septal defect
hypoplastic left heart
tetralogy of fallot
ventricular septal defect
pulmonic stenosis
more
Abdomen Gastrointestinal:
anal atresia

Genitourinary Kidneys:
hydronephrosis

Endocrine Features:
adrenal hypoplasia
growth hormone deficiency

Chest Ribs Sternum Clavicles And Scapulae:
absent ribs


Clinical features from OMIM:

220210

Human phenotypes related to Ritscher-Schinzel Syndrome 1:

59 32 (show top 50) (show all 77)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000256
2 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
3 low-set ears 59 32 frequent (33%) Frequent (79-30%) HP:0000369
4 short neck 59 32 occasional (7.5%) Occasional (29-5%) HP:0000470
5 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
6 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
7 hydrocephalus 59 32 frequent (33%) Frequent (79-30%) HP:0000238
8 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
9 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
10 neurological speech impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0002167
11 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
12 kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002808
13 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
14 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
15 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
16 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
17 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
18 short nose 59 32 frequent (33%) Frequent (79-30%) HP:0003196
19 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
20 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
21 gastroesophageal reflux 59 32 occasional (7.5%) Occasional (29-5%) HP:0002020
22 feeding difficulties in infancy 59 32 occasional (7.5%) Occasional (29-5%) HP:0008872
23 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
24 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
25 prominent occiput 59 32 frequent (33%) Frequent (79-30%) HP:0000269
26 abnormality of the hip bone 59 32 occasional (7.5%) Occasional (29-5%) HP:0003272
27 aplasia/hypoplasia of the nipples 59 32 occasional (7.5%) Occasional (29-5%) HP:0006709
28 postnatal growth retardation 59 32 occasional (7.5%) Occasional (29-5%) HP:0008897
29 high, narrow palate 59 32 frequent (33%) Frequent (79-30%) HP:0002705
30 atrial septal defect 59 32 frequent (33%) Frequent (79-30%) HP:0001631
31 hypoplastic left heart 59 32 frequent (33%) Frequent (79-30%) HP:0004383
32 abnormality of neuronal migration 59 32 occasional (7.5%) Occasional (29-5%) HP:0002269
33 aplasia/hypoplasia of the cerebellum 59 32 frequent (33%) Frequent (79-30%) HP:0007360
34 chorioretinal coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000567
35 hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000047
36 glaucoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000501
37 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
38 abnormality of the fontanelles or cranial sutures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000235
39 brachydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001156
40 anal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002023
41 tetralogy of fallot 59 32 frequent (33%) Frequent (79-30%) HP:0001636
42 hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001161
43 ventricular septal defect 59 32 frequent (33%) Frequent (79-30%) HP:0001629
44 intestinal malrotation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002566
45 hypoplasia of penis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008736
46 pulmonic stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0001642
47 iris coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000612
48 hemivertebrae 59 32 occasional (7.5%) Occasional (29-5%) HP:0002937
49 preauricular skin tag 59 32 occasional (7.5%) Occasional (29-5%) HP:0000384
50 hydronephrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000126

Drugs & Therapeutics for Ritscher-Schinzel Syndrome 1

Search Clinical Trials , NIH Clinical Center for Ritscher-Schinzel Syndrome 1

Genetic Tests for Ritscher-Schinzel Syndrome 1

Genetic tests related to Ritscher-Schinzel Syndrome 1:

# Genetic test Affiliating Genes
1 Dandy-Walker Like Malformation with Atrioventricular Septal Defect 29 WASHC5

Anatomical Context for Ritscher-Schinzel Syndrome 1

MalaCards organs/tissues related to Ritscher-Schinzel Syndrome 1:

41
Heart, Brain, Kidney, Testes, Tongue, Testis, Skin

Publications for Ritscher-Schinzel Syndrome 1

Articles related to Ritscher-Schinzel Syndrome 1:

# Title Authors Year
1
Prevalence of Semicircular Canal Hypoplasia in Patients With CHARGE Syndrome: 3C Syndrome. ( 27832265 )
2016
2
3C syndrome with cryptorchidism and posterior embryotoxon. ( 15770133 )
2005
3
Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome. ( 15704124 )
2005
4
First report of glaucoma as a feature of the 3C syndrome. ( 7606323 )
1995
5
A new 3C syndrome: cerebellar hypoplasia, cavernous haemangioma and coarctation of the aorta. ( 9435781 )
1993
6
3C syndrome: third occurrence of cranio-cerebello-cardiac dysplasia (Ritscher-Schinzel syndrome). ( 2650935 )
1989

Variations for Ritscher-Schinzel Syndrome 1

ClinVar genetic disease variations for Ritscher-Schinzel Syndrome 1:

6
(show all 40)
# Gene Variation Type Significance SNP ID Assembly Location
1 WASHC5 NM_014846.3(WASHC5): c.1876G> T (p.Val626Phe) single nucleotide variant Pathogenic rs80338867 GRCh37 Chromosome 8, 126069059: 126069059
2 WASHC5 NM_014846.3(WASHC5): c.1876G> T (p.Val626Phe) single nucleotide variant Pathogenic rs80338867 GRCh38 Chromosome 8, 125056817: 125056817
3 WASHC5 NM_014846.3(WASHC5): c.3335+2T> A single nucleotide variant Pathogenic rs398123007 GRCh37 Chromosome 8, 126044481: 126044481
4 WASHC5 NM_014846.3(WASHC5): c.3335+2T> A single nucleotide variant Pathogenic rs398123007 GRCh38 Chromosome 8, 125032239: 125032239
5 WASHC5 NM_014846.3(WASHC5): c.3319G> A (p.Val1107Met) single nucleotide variant Benign/Likely benign rs138407503 GRCh37 Chromosome 8, 126044499: 126044499
6 WASHC5 NM_014846.3(WASHC5): c.3319G> A (p.Val1107Met) single nucleotide variant Benign/Likely benign rs138407503 GRCh38 Chromosome 8, 125032257: 125032257
7 WASHC5 NM_014846.3(WASHC5): c.867A> C (p.Val289=) single nucleotide variant Benign rs79464415 GRCh38 Chromosome 8, 125075109: 125075109
8 WASHC5 NM_014846.3(WASHC5): c.867A> C (p.Val289=) single nucleotide variant Benign rs79464415 GRCh37 Chromosome 8, 126087351: 126087351
9 WASHC5 NM_014846.3(WASHC5): c.1408+7A> G single nucleotide variant Benign/Likely benign rs16900312 GRCh37 Chromosome 8, 126075757: 126075757
10 WASHC5 NM_014846.3(WASHC5): c.1408+7A> G single nucleotide variant Benign/Likely benign rs16900312 GRCh38 Chromosome 8, 125063515: 125063515
11 WASHC5 NM_014846.3(WASHC5): c.1245A> G (p.Leu415=) single nucleotide variant Benign/Likely benign rs10429323 GRCh37 Chromosome 8, 126079867: 126079867
12 WASHC5 NM_014846.3(WASHC5): c.1245A> G (p.Leu415=) single nucleotide variant Benign/Likely benign rs10429323 GRCh38 Chromosome 8, 125067625: 125067625
13 WASHC5 NM_014846.3(WASHC5): c.3225A> G (p.Pro1075=) single nucleotide variant Benign/Likely benign rs34569226 GRCh37 Chromosome 8, 126044593: 126044593
14 WASHC5 NM_014846.3(WASHC5): c.3225A> G (p.Pro1075=) single nucleotide variant Benign/Likely benign rs34569226 GRCh38 Chromosome 8, 125032351: 125032351
15 WASHC5 NM_014846.3(WASHC5): c.1151-8G> A single nucleotide variant Benign/Likely benign rs16900335 GRCh37 Chromosome 8, 126079969: 126079969
16 WASHC5 NM_014846.3(WASHC5): c.1151-8G> A single nucleotide variant Benign/Likely benign rs16900335 GRCh38 Chromosome 8, 125067727: 125067727
17 WASHC5 NM_014846.3(WASHC5): c.2422A> G (p.Ile808Val) single nucleotide variant Uncertain significance rs144507279 GRCh37 Chromosome 8, 126059531: 126059531
18 WASHC5 NM_014846.3(WASHC5): c.2422A> G (p.Ile808Val) single nucleotide variant Uncertain significance rs144507279 GRCh38 Chromosome 8, 125047289: 125047289
19 WASHC5 NM_014846.3(WASHC5): c.647C> T (p.Pro216Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs72720524 GRCh37 Chromosome 8, 126091044: 126091044
20 WASHC5 NM_014846.3(WASHC5): c.647C> T (p.Pro216Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs72720524 GRCh38 Chromosome 8, 125078802: 125078802
21 WASHC5 NM_014846.3(WASHC5): c.2971A> G (p.Ile991Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 125038943: 125038943
22 WASHC5 NM_014846.3(WASHC5): c.2971A> G (p.Ile991Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 126051185: 126051185
23 WASHC5 NM_014846.3(WASHC5): c.3210G> A (p.Pro1070=) single nucleotide variant Likely benign rs200733182 GRCh38 Chromosome 8, 125032366: 125032366
24 WASHC5 NM_014846.3(WASHC5): c.3210G> A (p.Pro1070=) single nucleotide variant Likely benign rs200733182 GRCh37 Chromosome 8, 126044608: 126044608
25 WASHC5 NM_014846.3(WASHC5): c.1771T> C (p.Ser591Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 126069902: 126069902
26 WASHC5 NM_014846.3(WASHC5): c.1771T> C (p.Ser591Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 125057660: 125057660
27 WASHC5 NM_014846.3(WASHC5): c.1668C> T (p.Phe556=) single nucleotide variant Likely benign rs199725572 GRCh37 Chromosome 8, 126071638: 126071638
28 WASHC5 NM_014846.3(WASHC5): c.1668C> T (p.Phe556=) single nucleotide variant Likely benign rs199725572 GRCh38 Chromosome 8, 125059396: 125059396
29 WASHC5 NM_014846.3(WASHC5): c.2016+10C> G single nucleotide variant Likely benign GRCh37 Chromosome 8, 126068909: 126068909
30 WASHC5 NM_014846.3(WASHC5): c.2016+10C> G single nucleotide variant Likely benign GRCh38 Chromosome 8, 125056667: 125056667
31 WASHC5 NM_014846.3(WASHC5): c.885G> A (p.Gly295=) single nucleotide variant Likely benign GRCh38 Chromosome 8, 125075091: 125075091
32 WASHC5 NM_014846.3(WASHC5): c.885G> A (p.Gly295=) single nucleotide variant Likely benign GRCh37 Chromosome 8, 126087333: 126087333
33 WASHC5 NM_014846.3(WASHC5): c.2093_2095delTCA (p.Ile698del) deletion Uncertain significance GRCh38 Chromosome 8, 125055593: 125055595
34 WASHC5 NM_014846.3(WASHC5): c.2093_2095delTCA (p.Ile698del) deletion Uncertain significance GRCh37 Chromosome 8, 126067835: 126067837
35 WASHC5 NM_014846.3(WASHC5): c.1942G> A (p.Asp648Asn) single nucleotide variant Uncertain significance rs758919422 GRCh38 Chromosome 8, 125056751: 125056751
36 WASHC5 NM_014846.3(WASHC5): c.1942G> A (p.Asp648Asn) single nucleotide variant Uncertain significance rs758919422 GRCh37 Chromosome 8, 126068993: 126068993
37 WASHC5 NM_014846.3(WASHC5): c.1785G> T (p.Leu595=) single nucleotide variant Likely benign rs1044612540 GRCh38 Chromosome 8, 125057646: 125057646
38 WASHC5 NM_014846.3(WASHC5): c.1785G> T (p.Leu595=) single nucleotide variant Likely benign rs1044612540 GRCh37 Chromosome 8, 126069888: 126069888
39 WASHC5 NM_014846.3(WASHC5): c.872G> A (p.Ser291Asn) single nucleotide variant Uncertain significance rs753529606 GRCh38 Chromosome 8, 125075104: 125075104
40 WASHC5 NM_014846.3(WASHC5): c.872G> A (p.Ser291Asn) single nucleotide variant Uncertain significance rs753529606 GRCh37 Chromosome 8, 126087346: 126087346

Expression for Ritscher-Schinzel Syndrome 1

Search GEO for disease gene expression data for Ritscher-Schinzel Syndrome 1.

Pathways for Ritscher-Schinzel Syndrome 1

GO Terms for Ritscher-Schinzel Syndrome 1

Cellular components related to Ritscher-Schinzel Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endosome GO:0005768 8.62 CCDC22 WASHC5

Biological processes related to Ritscher-Schinzel Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 8.62 CCDC22 WASHC5

Sources for Ritscher-Schinzel Syndrome 1

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