RRS1
MCID: RBN022
MIFTS: 47

Robinow Syndrome, Autosomal Recessive 1 (RRS1)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases, Reproductive diseases, Smell/Taste diseases

Aliases & Classifications for Robinow Syndrome, Autosomal Recessive 1

MalaCards integrated aliases for Robinow Syndrome, Autosomal Recessive 1:

Name: Robinow Syndrome, Autosomal Recessive 1 57
Robinow Syndrome, Autosomal Recessive 57 29 13 55 6 40
Covesdem Syndrome 12 75 59 74
Autosomal Recessive Robinow Syndrome 12 59 15
Rrs 12 59 74
Costovertebral Segmentation Defect-Mesomelia Syndrome 12 59
Robinow Syndrome, Autosomal Recessive, with Aplasia/hypoplasia of Phalanges and Metacarpals/metatarsals 6
Robinow Syndrome Autosomal Recessive with Aplasia/hypoplasia of Phalanges and Metacarpals/metatarsals 74
Robinow Syndrome, Autosomal Recessive, with Brachy-Syn-Polydactyly 6
Robinow Syndrome Autosomal Recessive with Brachy-Syn-Polydactyly 74
Costovertebral Segmentation Defect with Mesomelia, Formerly 57
Costovertebral Segmentation Defect with Mesomelia 74
Robinow Syndrome Autosomal Recessive 74
Covesdem Syndrome, Formerly 57
Rrs1 57

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive robinow syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
see also autosomal dominant robinow syndrome ()
allelic disorder to brachydactyly type b ()


HPO:

32
robinow syndrome, autosomal recessive 1:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060764
MESH via Orphanet 45 C535863
ICD10 via Orphanet 34 Q87.1
UMLS via Orphanet 73 C1849334
Orphanet 59 ORPHA1507

Summaries for Robinow Syndrome, Autosomal Recessive 1

UniProtKB/Swiss-Prot : 74 Robinow syndrome autosomal recessive: A recessive form of Robinow syndrome, a disease characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia. The clinical signs are generally far more severe in recessive cases, particularly skeletal abnormalities. All patients with the recessive form suffer from vertebral segmentation abnormalities, resulting in scoliosis and chest deformities. Rib fusions are considered to be characteristic of the autosomal recessive form. Patients can also present brachydactyly, with extensive aplasia/hypoplasia of the phalanges and metacarpals/metatarsals, and brachy-syn-polydactyly of the hands and oligodactyly of the feet.

MalaCards based summary : Robinow Syndrome, Autosomal Recessive 1, also known as robinow syndrome, autosomal recessive, is related to robinow syndrome and robinow syndrome, autosomal recessive 2. An important gene associated with Robinow Syndrome, Autosomal Recessive 1 is ROR2 (Receptor Tyrosine Kinase Like Orphan Receptor 2), and among its related pathways/superpathways are tRNA Aminoacylation and Intraflagellar transport. Affiliated tissues include bone, tongue and kidney, and related phenotypes are hypertelorism and open bite

Disease Ontology : 12 A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has material basis in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22.

OMIM : 57 Autosomal recessive Robinow syndrome-1 is a severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia (summary by van Bokhoven et al., 2000). (268310)

Wikipedia : 75 Robinow syndrome is an extremely rare genetic disorder characterized by short-limbed dwarfism,... more...

Related Diseases for Robinow Syndrome, Autosomal Recessive 1

Diseases in the Robinow Syndrome family:

Robinow Syndrome, Autosomal Dominant 1 Robinow Syndrome, Autosomal Recessive 1
Robinow Syndrome, Autosomal Dominant 2 Robinow Syndrome, Autosomal Dominant 3
Robinow Syndrome, Autosomal Recessive 2 Autosomal Dominant Robinow Syndrome

Diseases related to Robinow Syndrome, Autosomal Recessive 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 194)
# Related Disease Score Top Affiliating Genes
1 robinow syndrome 31.9 ROR2 RARS2
2 robinow syndrome, autosomal recessive 2 11.3
3 richards-rundle syndrome 11.2
4 interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 11.2
5 robinow syndrome, autosomal dominant 1 11.2
6 uv-sensitive syndrome 1 11.2
7 uv-sensitive syndrome 2 11.2
8 uv-sensitive syndrome 3 11.2
9 robinow syndrome, autosomal dominant 2 11.2
10 robinow syndrome, autosomal dominant 3 11.2
11 chaotic atrial tachycardia 11.2
12 atrial fibrillation 10.6
13 congestive heart failure 10.4
14 cardiac conduction defect 10.4
15 ventricular fibrillation, paroxysmal familial, 1 10.3
16 brachydactyly 10.3
17 dwarfism 10.3
18 huntington disease 10.3
19 acute myocardial infarction 10.3
20 atrioventricular block 10.2
21 brachydactyly, type b1 10.2
22 cardiac arrhythmia 10.2
23 relapsing-remitting multiple sclerosis 10.2
24 autonomic dysfunction 10.2
25 mesomelia 10.2
26 myocardial infarction 10.2
27 heart disease 10.2
28 long qt syndrome 10.2
29 syncope 10.2
30 breast cancer 10.1
31 colorectal cancer 10.1
32 thyroid cancer, nonmedullary, 1 10.1
33 cervical cancer 10.1
34 sleeping sickness 10.1
35 trypanosomiasis 10.1
36 thyroid gland papillary carcinoma 10.1
37 thyroid carcinoma 10.1
38 progressive familial heart block, type ia 10.1
39 angina pectoris 10.1
40 hypertelorism 10.1
41 hydronephrosis 10.1
42 nephrocalcinosis 10.1
43 ror2-related robinow syndrome 10.1
44 atrial standstill 1 10.1
45 hypertension, essential 10.1
46 papillomatosis, confluent and reticulated 10.1
47 leprosy 3 10.1
48 resting heart rate, variation in 10.1
49 coronary heart disease 1 10.1
50 sleep apnea 10.1

Graphical network of the top 20 diseases related to Robinow Syndrome, Autosomal Recessive 1:



Diseases related to Robinow Syndrome, Autosomal Recessive 1

Symptoms & Phenotypes for Robinow Syndrome, Autosomal Recessive 1

Human phenotypes related to Robinow Syndrome, Autosomal Recessive 1:

59 32 (show top 50) (show all 117)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 open bite 59 32 hallmark (90%) Very frequent (99-80%) HP:0010807
3 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
4 short nose 59 32 very rare (1%) Very frequent (99-80%) HP:0003196
5 anteverted nares 59 32 very rare (1%) Very frequent (99-80%) HP:0000463
6 wide mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000154
7 clinodactyly of the 5th finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0004209
8 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
9 downturned corners of mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0002714
10 hypoplasia of penis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008736
11 vertebral segmentation defect 59 32 hallmark (90%) Very frequent (99-80%) HP:0003422
12 disproportionate short-limb short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0008873
13 midface retrusion 59 32 hallmark (90%) Very frequent (99-80%) HP:0011800
14 short distal phalanx of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0009882
15 mesomelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003027
16 macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000256
17 pectus excavatum 59 32 frequent (33%) Frequent (79-30%) HP:0000767
18 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
19 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
20 kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002808
21 gingival overgrowth 59 32 frequent (33%) Frequent (79-30%) HP:0000212
22 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
23 chronic otitis media 59 32 frequent (33%) Frequent (79-30%) HP:0000389
24 depressed nasal bridge 59 32 very rare (1%) Frequent (79-30%) HP:0005280
25 umbilical hernia 59 32 frequent (33%) Frequent (79-30%) HP:0001537
26 broad hallux phalanx 59 32 frequent (33%) Frequent (79-30%) HP:0010059
27 broad thumb 59 32 frequent (33%) Frequent (79-30%) HP:0011304
28 long philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000343
29 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
30 tented upper lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0010804
31 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
32 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
33 low-set, posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000368
34 upslanted palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0000582
35 elbow dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0003042
36 proptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000520
37 rib fusion 59 32 frequent (33%) Frequent (79-30%) HP:0000902
38 long palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0000637
39 long eyelashes 59 32 very rare (1%) Frequent (79-30%) HP:0000527
40 fingernail dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0100798
41 bifid tongue 59 32 very rare (1%) Frequent (79-30%) HP:0010297
42 ankyloglossia 59 32 frequent (33%) Frequent (79-30%) HP:0010296
43 hypoplastic female external genitalia 59 32 frequent (33%) Frequent (79-30%) HP:0012815
44 short neck 59 32 very rare (1%) Occasional (29-5%) HP:0000470
45 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
46 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
47 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
48 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
49 recurrent respiratory infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0002205
50 pectus carinatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000768

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
macroglossia
absent uvula
downturned mouth corners (95%)
triangular mouth (86%)
thin upper lip (29%)
more
Genitourinary Kidneys:
hydronephrosis
renal duplication (10%)

Head And Neck Ears:
posteriorly rotated ears
low-set ears (45%)

Neurologic Central Nervous System:
developmental delay
mental retardation (18% of patients)

Skeletal:
delayed bone age

Head And Neck Head:
large anterior fontanel
delayed fontanel closure
macrocephaly (26%)

Chest Ribs Sternum Clavicles And Scapulae:
absent ribs
pectus excavatum (31%)
rib fusion (100%)

Head And Neck Nose:
anteverted nares (96%)
short, upturned nose (95%)
broad nasal bridge (95%)
depressed nasal bridge (49%)

Skeletal Feet:
bifid terminal phalanges
broad toes (24%)

Head And Neck Neck:
short neck (31%)

Genitourinary External Genitalia Female:
small clitoris (80%)
small labia minora (81%)
small labia majora (40%)

Skeletal Limbs:
mesomelia (100%)
limited elbow supination (37%)

Abdomen External Features:
umbilical hernia
abnormal umbilicus

Skin Nails Hair Skin:
nevus flammeus

Skeletal Spine:
thoracolumbar scoliosis
hypoplastic sacrum
fused vertebrae
scoliosis (77%)
thoracic hemivertebrae (98%)

Head And Neck Eyes:
downslanting palpebral fissures
hypertelorism (100%)
wide palpebral fissures (34%)
prominent eyes (14%)
long eyelashes (59%)

Skeletal Hands:
brachymesophalangism v
bifid terminal phalanges
small hands (84%)
brachydactyly (91%)
clinodactyly (88%)
more
Head And Neck Face:
flat facial profile
frontal bossing (78%)
long philtrum (39%)
micrognathia (68%)
retrognathia (37%)
more
Head And Neck Teeth:
delayed eruption of secondary teeth
crowded teeth (94%)

Cardiovascular Heart:
right ventricular outlet obstruction

Growth Height:
short stature (postnatal onset) (97%)

Genitourinary External Genitalia Male:
small penis (100%)
inguinal hernia (21%)

Genitourinary Internal Genitalia Male:
cryptorchidism (67%)

Skin Nails Hair Nails:
nail dysplasia (35%)

Clinical features from OMIM:

268310

Drugs & Therapeutics for Robinow Syndrome, Autosomal Recessive 1

Search Clinical Trials , NIH Clinical Center for Robinow Syndrome, Autosomal Recessive 1

Genetic Tests for Robinow Syndrome, Autosomal Recessive 1

Genetic tests related to Robinow Syndrome, Autosomal Recessive 1:

# Genetic test Affiliating Genes
1 Robinow Syndrome, Autosomal Recessive 29 ROR2

Anatomical Context for Robinow Syndrome, Autosomal Recessive 1

MalaCards organs/tissues related to Robinow Syndrome, Autosomal Recessive 1:

41
Bone, Tongue, Kidney, Eye

Publications for Robinow Syndrome, Autosomal Recessive 1

Articles related to Robinow Syndrome, Autosomal Recessive 1:

(show all 35)
# Title Authors PMID Year
1
Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome. 9 8 71
15952209 2005
2
A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes. 8 71
19640924 2009
3
Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation. 8 71
18831060 2008
4
Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B. 8 71
10986040 2000
5
Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. 8 71
10932186 2000
6
Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. 8 71
10932187 2000
7
Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome. 9 8
14745966 2004
8
Comment on COVESDEM syndrome. 38 8
3631143 1987
9
Spondylocostal/spondylothoracic dysostosis: the clinical basis for prognosticating and genetic counseling. 38 8
3740094 1986
10
Covesdem syndrome. 38 8
458838 1979
11
Recessively inherited costovertebral segmentation defect with mesomelia and peculiar facies (Covesdem syndrome): A new genetic entity? 38 8
641945 1978
12
Craniofacial and intraoral phenotype of Robinow syndrome forms. 8
21496006 2011
13
Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome. 8
17256787 2007
14
ER-associated protein degradation is a common mechanism underpinning numerous monogenic diseases including Robinow syndrome. 71
16049033 2005
15
ROR2-Related Robinow Syndrome 71
20301418 2005
16
Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22. 8
10798366 2000
17
Recessive Robinow syndrome: with emphasis on endocrine functions. 8
9826209 1998
18
Robinow syndrome, vaginal atresia, hematocolpos, and extra middle finger. 8
9738864 1998
19
Is the frequency of Robinow syndrome relatively high in Turkey? Four more case reports. 8
9383028 1997
20
Unusual traits associated with Robinow syndrome. 8
9321759 1997
21
Robinow syndrome: with special emphasis on dermatoglyphics and hand malformations (split hand). 8
8287181 1993
22
Robinow syndrome in two siblings from consanguineous parents. 8
1505578 1992
23
Concurrence of Robinow syndrome and Crigler-Najar syndrome in two offspring of first cousins. 8
2260598 1990
24
Autosomal recessive Robinow syndrome. 8
2301471 1990
25
[2 cases of Robinow's syndrome with mental retardation]. 8
2805135 1989
26
Robinow syndrome with parental consanguinity. 8
2744039 1989
27
Autosomal recessive Robinow-like syndrome with anterior chamber cleavage anomalies. 8
3189394 1988
28
Robinow syndrome without mesomelic 'brachymelia': a report of five cases. 8
3746837 1986
29
Mesomelic dwarfism with hemivertebrae and small genitalia (the Robinow syndrome). 8
4724117 1973
30
Robinow Syndrome: A Rare Case Report and Review of Literature. 38
26379386 2015
31
A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family. 9
19461659 2009
32
Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved? 9
19236432 2009
33
Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum. 9
17665217 2007
34
A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH. 9
17632781 2007
35
Covesdem syndrome. 38
7365769 1980

Variations for Robinow Syndrome, Autosomal Recessive 1

ClinVar genetic disease variations for Robinow Syndrome, Autosomal Recessive 1:

6 (show all 15)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ROR2 NM_004560.4(ROR2): c.1504C> T (p.Gln502Ter) single nucleotide variant Pathogenic rs121909083 9:94487272-94487272 9:91724990-91724990
2 ROR2 NM_004560.4(ROR2): c.550C> T (p.Arg184Cys) single nucleotide variant Pathogenic rs121909084 9:94499745-94499745 9:91737463-91737463
3 ROR2 NM_004560.4(ROR2): c.2160G> A (p.Trp720Ter) single nucleotide variant Pathogenic rs121909085 9:94486616-94486616 9:91724334-91724334
4 ROR2 NM_004560.4(ROR2): c.613C> T (p.Arg205Ter) single nucleotide variant Pathogenic rs121909086 9:94499682-94499682 9:91737400-91737400
5 ROR2 NM_004560.4(ROR2): c.1321_1325del (p.Arg441fs) deletion Pathogenic rs863223290 9:94488884-94488888 9:91726602-91726606
6 ROR2 NM_004560.4(ROR2): c.1937_1943del (p.Tyr646fs) deletion Pathogenic rs863223291 9:94486833-94486839 9:91724551-91724557
7 ROR2 NM_004560.4(ROR2): c.355C> T (p.Arg119Ter) single nucleotide variant Pathogenic rs121909087 9:94519662-94519662 9:91757380-91757380
8 ROR2 NG_008089.1: g.218534_227384del deletion Pathogenic 9:94490061-94498911 9:91727779-91736629
9 ROR2 NM_004560.4(ROR2): c.1324C> T (p.Arg442Ter) single nucleotide variant Pathogenic rs267607016 9:94488885-94488885 9:91726603-91726603
10 ROR2 NM_004560.4(ROR2): c.2805C> G (p.Asp935Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs41277835 9:94485971-94485971 9:91723689-91723689
11 ROR2 NM_004560.4(ROR2): c.1959G> A (p.Leu653=) single nucleotide variant Conflicting interpretations of pathogenicity rs144549032 9:94486817-94486817 9:91724535-91724535
12 ROR2 NM_004560.4(ROR2): c.986G> A (p.Ser329Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs371221714 9:94493389-94493389 9:91731107-91731107
13 ROR2 NM_004560.4(ROR2): c.75G> A (p.Leu25=) single nucleotide variant Conflicting interpretations of pathogenicity rs148237260 9:94712171-94712171 9:91949889-91949889
14 ROR2 NM_004560.4(ROR2): c.730C> T (p.Arg244Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs148340413 9:94495611-94495611 9:91733329-91733329
15 ROR2 NM_004560.4(ROR2): c.2080T> C (p.Cys694Arg) single nucleotide variant Uncertain significance rs142386992 9:94486696-94486696 9:91724414-91724414

UniProtKB/Swiss-Prot genetic disease variations for Robinow Syndrome, Autosomal Recessive 1:

74
# Symbol AA change Variation ID SNP ID
1 ROR2 p.Arg184Cys VAR_010768 rs121909084
2 ROR2 p.Arg189Trp VAR_010769 rs199975149
3 ROR2 p.Arg366Trp VAR_010770
4 ROR2 p.Asn620Lys VAR_010771
5 ROR2 p.Cys182Tyr VAR_010911

Expression for Robinow Syndrome, Autosomal Recessive 1

Search GEO for disease gene expression data for Robinow Syndrome, Autosomal Recessive 1.

Pathways for Robinow Syndrome, Autosomal Recessive 1

Pathways related to Robinow Syndrome, Autosomal Recessive 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.17 SARS2 RARS2 AIMP2 AIMP1
2 10.57 TNPO1 IFT57

GO Terms for Robinow Syndrome, Autosomal Recessive 1

Cellular components related to Robinow Syndrome, Autosomal Recessive 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.4 TNPO1 SYNCRIP SRR SARS2 ROR2 RARS2
2 aminoacyl-tRNA synthetase multienzyme complex GO:0017101 8.96 AIMP2 AIMP1

Biological processes related to Robinow Syndrome, Autosomal Recessive 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 9.26 SARS2 RARS2 AIMP2 AIMP1
2 intraciliary transport involved in cilium assembly GO:0035735 9.16 TNPO1 IFT57
3 tRNA aminoacylation for protein translation GO:0006418 8.92 SARS2 RARS2 AIMP2 AIMP1

Molecular functions related to Robinow Syndrome, Autosomal Recessive 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.1 TNPO1 SYNCRIP SARS2 RARS2 ENDOV AIMP1
2 aminoacyl-tRNA ligase activity GO:0004812 8.96 SARS2 RARS2

Sources for Robinow Syndrome, Autosomal Recessive 1

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