MCID: RTS001
MIFTS: 32

Ritscher-Schinzel Syndrome

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

Aliases & Classifications for Ritscher-Schinzel Syndrome

MalaCards integrated aliases for Ritscher-Schinzel Syndrome:

Name: Ritscher-Schinzel Syndrome 12 25 29 6 15
3c Syndrome 25 44 70
Cranio-Cerebello-Cardiac Dysplasia 25
Craniocerebellocardiac Dysplasia 12
Ccc Dysplasia 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060565
MeSH 44 C535313
SNOMED-CT 67 718556007
UMLS 70 C0796137

Summaries for Ritscher-Schinzel Syndrome

Disease Ontology : 12 A syndrome characterized by craniofacial (prominent occiputal 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.

MalaCards based summary : Ritscher-Schinzel Syndrome, also known as 3c syndrome, is related to ritscher-schinzel syndrome 1 and ritscher-schinzel syndrome 2. An important gene associated with Ritscher-Schinzel Syndrome is WASHC5 (WASH Complex Subunit 5), and among its related pathways/superpathways are Endocytosis and WNT ligand biogenesis and trafficking.

GeneReviews: NBK553049

Related Diseases for Ritscher-Schinzel Syndrome

Diseases in the Ritscher-Schinzel Syndrome family:

Ritscher-Schinzel Syndrome 1 Ritscher-Schinzel Syndrome 2
Ritscher-Schinzel Syndrome 3

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

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 ritscher-schinzel syndrome 1 32.6 WASHC5-AS1 WASHC5 DPYSL5 CCDC22
2 ritscher-schinzel syndrome 2 32.5 CCDC22 ARHGEF9
3 spastic paraplegia 8 29.8 WASHC5-AS1 WASHC5
4 spastic paraplegia 8, autosomal dominant 29.1 WASHC5 WASHC4 WASHC3 WASHC1
5 ritscher-schinzel syndrome 3 11.7
6 ulnar-mammary syndrome 10.7
7 hypertelorism 10.4
8 alacrima, achalasia, and mental retardation syndrome 10.3
9 heart septal defect 10.3
10 hypotonia 10.3
11 cleft palate, isolated 10.1
12 cleidocranial dysplasia 10.1
13 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.1
14 hypercholesterolemia, familial, 1 10.1
15 megalocornea 10.1
16 cree mental retardation syndrome 10.1
17 pulmonary hypertension 10.1
18 autosomal recessive disease 10.1
19 sleep apnea 10.1
20 ptosis 10.1
21 clubfoot 10.1
22 atrial heart septal defect 10.1
23 cleidocranial dysplasia spectrum disorder 10.1
24 megalencephaly 10.1
25 coloboma of macula 10.0
26 patent ductus arteriosus 1 10.0
27 hydrocephalus 10.0
28 ventricular septal defect 10.0
29 chromosome 2q35 duplication syndrome 9.8
30 tetralogy of fallot 9.8
31 renal hypodysplasia/aplasia 1 9.8
32 joubert syndrome 1 9.8
33 charge syndrome 9.8
34 cryptorchidism, unilateral or bilateral 9.8
35 dandy-walker syndrome 9.8
36 duodenal atresia 9.8
37 pulmonic stenosis 9.8
38 choanal atresia, posterior 9.8
39 intraocular pressure quantitative trait locus 9.8
40 stevenson-carey syndrome 9.8
41 chromosome 6pter-p24 deletion syndrome 9.8
42 developmental delay with short stature, dysmorphic facial features, and sparse hair 9.8
43 syndromic x-linked intellectual disability 9.8
44 cerebellar hypoplasia 9.8
45 hypospadias 9.8
46 double outlet right ventricle 9.8
47 cleft lip 9.8
48 alopecia 9.8
49 growth hormone deficiency 9.8
50 cerebellar malformation 9.8

Graphical network of the top 20 diseases related to Ritscher-Schinzel Syndrome:



Diseases related to Ritscher-Schinzel Syndrome

Symptoms & Phenotypes for Ritscher-Schinzel Syndrome

Drugs & Therapeutics for Ritscher-Schinzel Syndrome

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

Cochrane evidence based reviews: 3c syndrome

Genetic Tests for Ritscher-Schinzel Syndrome

Genetic tests related to Ritscher-Schinzel Syndrome:

# Genetic test Affiliating Genes
1 Ritscher-Schinzel Syndrome 29

Anatomical Context for Ritscher-Schinzel Syndrome

Publications for Ritscher-Schinzel Syndrome

Articles related to Ritscher-Schinzel Syndrome:

(show top 50) (show all 53)
# Title Authors PMID Year
1
Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex. 61 25
31712251 2020
2
[A phenotypic description of 26 patients with Ritscher-Schinzel syndrome (cranio-cerebello-cardiac dysplasia or 3C syndrome)]. 61 25
28555453 2017
3
Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies. 61 25
26220823 2015
4
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. 25 61
24916641 2015
5
A rare case of 3C disease: Ritscher-Schinzel syndrome presenting with recurrent talipes equinovarus. 61 25
25434475 2015
6
A novel KIAA0196 (SPG8) mutation in a Chinese family with spastic paraplegia. 6
24824269 2014
7
A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort. 25 61
24065355 2013
8
Radiographic characterization of the hands in Ritscher-Schinzel/3-C syndrome. 25 61
24255872 2013
9
Increased nuchal translucency thickness: a potential indicator for Ritscher-Schinzel syndrome. 25 61
18957854 2008
10
Re: 3C (Ritscher-Schinzel) syndrome: the importance of ruling out a terminal 6p deletion. 61 25
16155425 2005
11
Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome. 61 25
15704124 2005
12
Cranio-cerebello-cardiac (3C) syndrome: follow-up study of the original patient. 25 61
12605442 2003
13
Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review. 61 25
11484200 2001
14
Evidence for Ritscher-Schinzel syndrome in Canadian Native Indians. 61 25
7604842 1995
15
3C syndrome: third occurrence of cranio-cerebello-cardiac dysplasia (Ritscher-Schinzel syndrome). 61 25
2650935 1989
16
Nonfasting for Routine Lipid Testing: From Evidence to Action. 25
27119719 2016
17
CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL. 25
26965651 2016
18
CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling. 25
23563313 2013
19
CCDC22: a novel candidate gene for syndromic X-linked intellectual disability. 25
21826058 2012
20
Immunodeficiency associated with Dandy-Walker-like malformation, congenital heart defect, and craniofacial abnormalities. 25
2590300 1989
21
Dandy-Walker(like) malformation, atrio-ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: a new syndrome? 25
3812597 1987
22
[Ritscher-Schinzel syndrome caused by CCDC22 gene mutation: a case report]. 61
33059814 2020
23
Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature. 61
31953988 2020
24
Ritscher-Schinzel Syndrome 61
31971710 2020
25
Targeted next‑generation sequencing for research and diagnostics in congenital heart disease, and cleft lip and/or palate. 61
30896870 2019
26
Prevalence of Semicircular Canal Hypoplasia in Patients With CHARGE Syndrome: 3C Syndrome. 61
27832265 2017
27
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. 61
25880334 2015
28
3-C Ritscher-Schinzel syndrome with spinal subarachnoid cyst. 61
25712599 2015
29
A preterm infant with prolonged respiratory problems due to Ritscher-Schinzel syndrome. 61
23072186 2012
30
Ritscher-Schinzel (cranio-cerebello-cardiac, 3C) syndrome: report of four new cases with renal involvement. 61
21567916 2011
31
A new case of de novo translocation (12;17;18)(q21.2;q22;q21.1) and cranio-cerebello-cardiac (3C) syndrome. 61
21337688 2011
32
[Ventricular septal defect, pulmonary hypertension and 3C (cranio-cerebello-cardiac) syndrome: report of a case]. 61
20446611 2010
33
3C syndrome. 61
19504608 2010
34
The 6p subtelomere deletion syndrome. 61
17918735 2007
35
Segregation ratio in cranio-cerebello-cardiac syndrome. 61
16736035 2006
36
Infantile glaucoma associated with cranio-cerebello-cardiac syndrome. 61
16915906 2006
37
Severe feeding difficulties in 3C syndrome. 61
15770134 2005
38
3C syndrome with cryptorchidism and posterior embryotoxon. 61
15770133 2005
39
Ritscher-Schinzel or 3C syndrome, with heterochromatic iris. 61
14521535 2003
40
[Ritscher-Schinzel syndrome]. 61
11528910 2001
41
[Cranio-cerebello-cardiac (3C) syndrome]. 61
11462539 2001
42
The 3C syndrome: evolution of the phenotype and growth hormone deficiency. 61
10528249 1999
43
Does the cranio-cerebello-cardiac syndrome (3C syndrome) include abdominal malformations? 61
10532184 1999
44
Sibs with Ritscher-Schinzel (3C) syndrome and anal malformations. 61
9475602 1998
45
Ritscher-Schinzel (3C) syndrome: documentation of the phenotype. 61
9021015 1997
46
"Shifted" threshold may explain diversity of cardiovascular malformations in multiple congenital abnormalities syndromes: 3C (Ritscher-Schinzel) syndrome as an example. 61
8957516 1996
47
Cerebellar hypoplasia in a patient with velo-cardio-facial syndrome. 61
8870617 1996
48
First report of glaucoma as a feature of the 3C syndrome. 61
7606323 1995
49
Another case of Ritscher-Schinzel-syndrome: craniocerebello-cardiac dysplasia (3C-syndrome) with associated bilateral colobomata. 61
8157023 1994
50
'New' 3C syndrome. 61
8224559 1993

Variations for Ritscher-Schinzel Syndrome

ClinVar genetic disease variations for Ritscher-Schinzel Syndrome:

6 (show top 50) (show all 72)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WASHC5 NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro) SNV Pathogenic 463137 rs1554593901 GRCh37: 8:126069902-126069902
GRCh38: 8:125057660-125057660
2 WASHC5 NM_014846.4(WASHC5):c.2410A>G (p.Thr804Ala) SNV Uncertain significance 862787 GRCh37: 8:126059543-126059543
GRCh38: 8:125047301-125047301
3 WASHC5 NM_014846.4(WASHC5):c.863G>C (p.Trp288Ser) SNV Uncertain significance 933362 GRCh37: 8:126088591-126088591
GRCh38: 8:125076349-125076349
4 WASHC5 NM_014846.4(WASHC5):c.860A>G (p.Asn287Ser) SNV Uncertain significance 949761 GRCh37: 8:126088594-126088594
GRCh38: 8:125076352-125076352
5 WASHC5 NM_014846.4(WASHC5):c.625G>A (p.Glu209Lys) SNV Uncertain significance 951266 GRCh37: 8:126091066-126091066
GRCh38: 8:125078824-125078824
6 WASHC5 NM_014846.4(WASHC5):c.689G>A (p.Arg230Lys) SNV Uncertain significance 952723 GRCh37: 8:126091002-126091002
GRCh38: 8:125078760-125078760
7 WASHC5 NM_014846.4(WASHC5):c.3356C>G (p.Pro1119Arg) SNV Uncertain significance 970935 GRCh37: 8:126040929-126040929
GRCh38: 8:125028687-125028687
8 WASHC5 NM_014846.4(WASHC5):c.2430G>C (p.Lys810Asn) SNV Uncertain significance 216683 rs140742485 GRCh37: 8:126059523-126059523
GRCh38: 8:125047281-125047281
9 WASHC5 NM_014846.4(WASHC5):c.735G>C (p.Glu245Asp) SNV Uncertain significance 935991 GRCh37: 8:126088719-126088719
GRCh38: 8:125076477-125076477
10 WASHC5 NM_014846.4(WASHC5):c.2422A>G (p.Ile808Val) SNV Uncertain significance 374553 rs144507279 GRCh37: 8:126059531-126059531
GRCh38: 8:125047289-125047289
11 WASHC5 NM_014846.4(WASHC5):c.1892C>T (p.Pro631Leu) SNV Uncertain significance 810309 rs1586359734 GRCh37: 8:126069043-126069043
GRCh38: 8:125056801-125056801
12 WASHC5 NM_014846.4(WASHC5):c.445A>G (p.Met149Val) SNV Uncertain significance 1005950 GRCh37: 8:126093976-126093976
GRCh38: 8:125081734-125081734
13 WASHC5 NM_014846.4(WASHC5):c.880A>C (p.Met294Leu) SNV Uncertain significance 1008686 GRCh37: 8:126087338-126087338
GRCh38: 8:125075096-125075096
14 WASHC5 NM_014846.4(WASHC5):c.1901T>A (p.Met634Lys) SNV Uncertain significance 834521 GRCh37: 8:126069034-126069034
GRCh38: 8:125056792-125056792
15 WASHC5 NM_014846.4(WASHC5):c.2332A>G (p.Ile778Val) SNV Uncertain significance 834556 GRCh37: 8:126061295-126061295
GRCh38: 8:125049053-125049053
16 WASHC5 NM_014846.4(WASHC5):c.1772C>T (p.Ser591Phe) SNV Uncertain significance 495056 rs1554593899 GRCh37: 8:126069901-126069901
GRCh38: 8:125057659-125057659
17 WASHC5 NM_014846.4(WASHC5):c.1037AAG[1] (p.Glu347del) Microsatellite Uncertain significance 1014639 GRCh37: 8:126085503-126085505
GRCh38: 8:125073261-125073263
18 WASHC5 NM_014846.4(WASHC5):c.143A>G (p.Gln48Arg) SNV Uncertain significance 1014644 GRCh37: 8:126095998-126095998
GRCh38: 8:125083756-125083756
19 WASHC5 NM_014846.4(WASHC5):c.1424G>A (p.Trp475Ter) SNV Uncertain significance 1014986 GRCh37: 8:126073421-126073421
GRCh38: 8:125061179-125061179
20 WASHC5 NM_014846.4(WASHC5):c.541T>A (p.Ser181Thr) SNV Uncertain significance 1016185 GRCh37: 8:126091150-126091150
GRCh38: 8:125078908-125078908
21 WASHC5 NM_014846.4(WASHC5):c.3104G>A (p.Arg1035His) SNV Uncertain significance 410081 rs761500521 GRCh37: 8:126049556-126049556
GRCh38: 8:125037314-125037314
22 WASHC5 NC_000008.11:g.(?_125024607)_(125044104_?)del Deletion Uncertain significance 831091 GRCh37: 8:126036849-126056346
GRCh38:
23 WASHC5 NM_014846.4(WASHC5):c.161T>C (p.Ile54Thr) SNV Uncertain significance 216682 rs199936194 GRCh37: 8:126095980-126095980
GRCh38: 8:125083738-125083738
24 WASHC5 NM_014846.4(WASHC5):c.1235A>G (p.Gln412Arg) SNV Uncertain significance 1022084 GRCh37: 8:126079877-126079877
GRCh38: 8:125067635-125067635
25 WASHC5 NM_014846.4(WASHC5):c.2972T>C (p.Ile991Thr) SNV Uncertain significance 410080 rs142883794 GRCh37: 8:126051184-126051184
GRCh38: 8:125038942-125038942
26 WASHC5 NM_014846.4(WASHC5):c.3200C>T (p.Pro1067Leu) SNV Uncertain significance 361713 rs149383757 GRCh37: 8:126044618-126044618
GRCh38: 8:125032376-125032376
27 WASHC5 NM_014846.4(WASHC5):c.1178G>A (p.Arg393His) SNV Uncertain significance 566111 rs151298198 GRCh37: 8:126079934-126079934
GRCh38: 8:125067692-125067692
28 WASHC5 NM_014846.4(WASHC5):c.2158T>G (p.Phe720Val) SNV Uncertain significance 647112 rs1586352875 GRCh37: 8:126062847-126062847
GRCh38: 8:125050605-125050605
29 WASHC5 NM_014846.4(WASHC5):c.3329G>A (p.Cys1110Tyr) SNV Uncertain significance 841833 GRCh37: 8:126044489-126044489
GRCh38: 8:125032247-125032247
30 WASHC5 NM_014846.4(WASHC5):c.1883A>G (p.Gln628Arg) SNV Uncertain significance 851171 GRCh37: 8:126069052-126069052
GRCh38: 8:125056810-125056810
31 WASHC5 , WASHC5-AS1 NM_014846.4(WASHC5):c.2789A>C (p.Tyr930Ser) SNV Uncertain significance 862403 GRCh37: 8:126056128-126056128
GRCh38: 8:125043886-125043886
32 WASHC5 NM_014846.4(WASHC5):c.1705C>G (p.Gln569Glu) SNV Uncertain significance 948464 GRCh37: 8:126071523-126071523
GRCh38: 8:125059281-125059281
33 WASHC5 NM_014846.4(WASHC5):c.875T>C (p.Ile292Thr) SNV Uncertain significance 954858 GRCh37: 8:126087343-126087343
GRCh38: 8:125075101-125075101
34 WASHC5 , WASHC5-AS1 NM_014846.4(WASHC5):c.2752C>T (p.Pro918Ser) SNV Uncertain significance 989076 GRCh37: 8:126056252-126056252
GRCh38: 8:125044010-125044010
35 WASHC5 NM_014846.4(WASHC5):c.2137G>A (p.Glu713Lys) SNV Uncertain significance 240929 rs878854987 GRCh37: 8:126062868-126062868
GRCh38: 8:125050626-125050626
36 WASHC5 NM_014846.4(WASHC5):c.122G>A (p.Arg41Lys) SNV Uncertain significance 1046315 GRCh37: 8:126096019-126096019
GRCh38: 8:125083777-125083777
37 WASHC5 NM_014846.4(WASHC5):c.2199+5C>G SNV Likely benign 696672 rs149763012 GRCh37: 8:126062801-126062801
GRCh38: 8:125050559-125050559
38 WASHC5 NM_014846.4(WASHC5):c.1689-4A>G SNV Likely benign 696817 rs777297323 GRCh37: 8:126071543-126071543
GRCh38: 8:125059301-125059301
39 WASHC5 , WASHC5-AS1 NM_014846.4(WASHC5):c.2829G>A (p.Ala943=) SNV Likely benign 390766 rs369339497 GRCh37: 8:126056088-126056088
GRCh38: 8:125043846-125043846
40 WASHC5 NM_014846.4(WASHC5):c.3181+4C>T SNV Likely benign 389009 rs372154199 GRCh37: 8:126049475-126049475
GRCh38: 8:125037233-125037233
41 WASHC5 NM_014846.4(WASHC5):c.96C>G (p.Leu32=) SNV Likely benign 415946 rs1060504698 GRCh37: 8:126096045-126096045
GRCh38: 8:125083803-125083803
42 WASHC5 NM_014846.4(WASHC5):c.3210G>A (p.Pro1070=) SNV Likely benign 463140 rs200733182 GRCh37: 8:126044608-126044608
GRCh38: 8:125032366-125032366
43 WASHC5 NM_014846.4(WASHC5):c.647C>T (p.Pro216Leu) SNV Likely benign 431857 rs72720524 GRCh37: 8:126091044-126091044
GRCh38: 8:125078802-125078802
44 WASHC5 NM_014846.4(WASHC5):c.1942G>A (p.Asp648Asn) SNV Likely benign 531991 rs758919422 GRCh37: 8:126068993-126068993
GRCh38: 8:125056751-125056751
45 WASHC5 NM_014846.4(WASHC5):c.1688+10del Deletion Likely benign 415947 rs757113799 GRCh37: 8:126071608-126071608
GRCh38: 8:125059366-125059366
46 WASHC5 NM_014846.4(WASHC5):c.187-6T>C SNV Likely benign 695262 rs200227798 GRCh37: 8:126095506-126095506
GRCh38: 8:125083264-125083264
47 WASHC5 NM_014846.4(WASHC5):c.1650C>T (p.Ile550=) SNV Likely benign 695472 rs780912744 GRCh37: 8:126071656-126071656
GRCh38: 8:125059414-125059414
48 WASHC5 NM_014846.4(WASHC5):c.617A>G (p.Asn206Ser) SNV Likely benign 289452 rs150026441 GRCh37: 8:126091074-126091074
GRCh38: 8:125078832-125078832
49 WASHC5 NM_014846.4(WASHC5):c.555T>C (p.Asp185=) SNV Likely benign 361732 rs145934920 GRCh37: 8:126091136-126091136
GRCh38: 8:125078894-125078894
50 WASHC5 NM_014846.4(WASHC5):c.451C>T (p.Leu151=) SNV Likely benign 697820 rs6470336 GRCh37: 8:126093970-126093970
GRCh38: 8:125081728-125081728

Expression for Ritscher-Schinzel Syndrome

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

Pathways for Ritscher-Schinzel Syndrome

Pathways related to Ritscher-Schinzel Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.5 WASHC5 WASHC4 WASHC3 WASHC1 VPS29 VPS26A
2
Show member pathways
10.7 VPS29 VPS26A

GO Terms for Ritscher-Schinzel Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 early endosome GO:0005769 9.63 WASHC5 WASHC4 WASHC3 WASHC1 VPS29 VPS26A
2 endosome GO:0005768 9.56 WASHC5 WASHC4 WASHC3 WASHC1 VPS35L VPS29
3 endosome membrane GO:0010008 9.54 WASHC1 VPS29 VPS26A
4 retromer complex GO:0030904 9.32 VPS29 VPS26A
5 retromer, cargo-selective complex GO:0030906 9.26 VPS29 VPS26A
6 WASH complex GO:0071203 8.92 WASHC5 WASHC4 WASHC3 WASHC1

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

# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.56 WASHC5 WASHC4 WASHC3 WASHC1 VPS35L VPS29
2 endosomal transport GO:0016197 9.5 WASHC5 WASHC4 WASHC1
3 endosome organization GO:0007032 9.43 WASHC5 WASHC4
4 retrograde transport, endosome to Golgi GO:0042147 9.43 WASHC1 VPS29 VPS26A
5 actin filament polymerization GO:0030041 9.4 WASHC5 WASHC3
6 Golgi to plasma membrane transport GO:0006893 9.37 VPS35L CCDC22
7 endocytic recycling GO:0032456 9.33 VPS35L VPS29 CCDC22
8 retrograde transport, endosome to plasma membrane GO:1990126 9.02 WASHC1 VPS35L VPS29 VPS26A CCDC22

Sources for Ritscher-Schinzel Syndrome

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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