RRS
MCID: RBN009
MIFTS: 47

Robinow Syndrome, Autosomal Recessive (RRS)

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

Aliases & Classifications for Robinow Syndrome, Autosomal Recessive

MalaCards integrated aliases for Robinow Syndrome, Autosomal Recessive:

Name: Robinow Syndrome, Autosomal Recessive 58 30 13 56 6 41 74
Covesdem Syndrome 12 77 60 76
Rrs 58 12 60 76
Autosomal Recessive Robinow Syndrome 12 60 15
Costovertebral Segmentation Defect-Mesomelia Syndrome 12 60
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 76
Robinow Syndrome, Autosomal Recessive, with Brachy-Syn-Polydactyly 6
Robinow Syndrome Autosomal Recessive with Brachy-Syn-Polydactyly 76
Costovertebral Segmentation Defect with Mesomelia, Formerly 58
Costovertebral Segmentation Defect with Mesomelia 76
Robinow Syndrome Autosomal Recessive 76
Covesdem Syndrome, Formerly 58

Characteristics:

Orphanet epidemiological data:

60
autosomal recessive robinow syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
robinow syndrome, autosomal recessive:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Robinow Syndrome, Autosomal Recessive

UniProtKB/Swiss-Prot : 76 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, also known as covesdem syndrome, is related to robinow syndrome and richards-rundle syndrome. An important gene associated with Robinow Syndrome, Autosomal Recessive is ROR2 (Receptor Tyrosine Kinase Like Orphan Receptor 2), and among its related pathways/superpathways is tRNA Aminoacylation. 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 : 58 Autosomal recessive Robinow syndrome 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 : 77 Robinow syndrome is an extremely rare genetic disorder characterized by short-limbed dwarfism,... more...

Related Diseases for Robinow Syndrome, Autosomal Recessive

Diseases in the Robinow Syndrome family:

Robinow Syndrome, Autosomal Dominant 1 Robinow Syndrome, Autosomal Recessive
Robinow Syndrome, Autosomal Dominant 2 Robinow Syndrome, Autosomal Dominant 3
Autosomal Dominant Robinow Syndrome Ror2-Related Robinow Syndrome

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

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 robinow syndrome 28.8 BCL2A1 HPSE HSPD1 INHA LMBR1 MRRF
2 richards-rundle syndrome 11.1
3 interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 11.1
4 robinow syndrome, autosomal dominant 1 11.0
5 uv-sensitive syndrome 1 11.0
6 uv-sensitive syndrome 2 11.0
7 uv-sensitive syndrome 3 11.0
8 robinow syndrome, autosomal dominant 2 11.0
9 robinow syndrome, autosomal dominant 3 11.0
10 chaotic atrial tachycardia 11.0
11 atrial fibrillation 10.2
12 rere-related disorders 10.2
13 israeli tick typhus 10.2 HPSE PLEKHG4
14 brachydactyly, type b1 10.1
15 brachydactyly 10.1
16 amelogenesis imperfecta, type ig 10.1 LMBR1 PTCHD3
17 multiple sclerosis 10.1
18 ventricular fibrillation, paroxysmal familial, 1 10.1
19 long qt syndrome 10.1
20 mesomelia 10.1
21 cardiac conduction defect 10.1
22 myocardial infarction 10.1
23 congestive heart failure 10.1
24 relapsing-remitting multiple sclerosis 10.1
25 spindle cell hemangioma 10.1
26 refractory anemia 10.1
27 acute myocardial infarction 10.0
28 leukemia 10.0
29 thyroid cancer 10.0
30 chronic fatigue syndrome 10.0
31 syncope 10.0
32 deafness, autosomal recessive 89 9.9 KARS PLEKHG4
33 interstitial emphysema 9.9 SLC22A4 TWIST1
34 spondyloarthropathy 1 9.8
35 colorectal cancer 9.8
36 ovarian cancer 9.8
37 neural tube defects 9.8
38 wolff-parkinson-white syndrome 9.8
39 cystic fibrosis 9.8
40 myeloma, multiple 9.8
41 pancreatic cancer 9.8
42 retinitis pigmentosa 9.8
43 orthostatic intolerance 9.8
44 angina pectoris 9.8
45 acute leukemia 9.8
46 ischemic heart disease 9.8
47 neutropenia 9.8
48 asymptomatic dengue 9.8
49 restless legs syndrome 9.8
50 borderline leprosy 9.8

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



Diseases related to Robinow Syndrome, Autosomal Recessive

Symptoms & Phenotypes for Robinow Syndrome, Autosomal Recessive

Human phenotypes related to Robinow Syndrome, Autosomal Recessive:

60 33 (show top 50) (show all 119)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
2 open bite 60 33 hallmark (90%) Very frequent (99-80%) HP:0010807
3 wide nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000431
4 short nose 60 33 very rare (1%) Very frequent (99-80%) HP:0003196
5 anteverted nares 60 33 very rare (1%) Very frequent (99-80%) HP:0000463
6 wide mouth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000154
7 clinodactyly of the 5th finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0004209
8 brachydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001156
9 downturned corners of mouth 60 33 hallmark (90%) Very frequent (99-80%) HP:0002714
10 hypoplasia of penis 60 33 hallmark (90%) Very frequent (99-80%) HP:0008736
11 vertebral segmentation defect 60 33 hallmark (90%) Very frequent (99-80%) HP:0003422
12 disproportionate short-limb short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0008873
13 midface retrusion 60 33 hallmark (90%) Very frequent (99-80%) HP:0011800
14 short distal phalanx of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0009882
15 mesomelia 60 33 hallmark (90%) Very frequent (99-80%) HP:0003027
16 macrocephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000256
17 pectus excavatum 60 33 frequent (33%) Frequent (79-30%) HP:0000767
18 frontal bossing 60 33 frequent (33%) Frequent (79-30%) HP:0002007
19 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
20 kyphosis 60 33 frequent (33%) Frequent (79-30%) HP:0002808
21 gingival overgrowth 60 33 frequent (33%) Frequent (79-30%) HP:0000212
22 hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000365
23 chronic otitis media 60 33 frequent (33%) Frequent (79-30%) HP:0000389
24 depressed nasal bridge 60 33 very rare (1%) Frequent (79-30%) HP:0005280
25 umbilical hernia 60 33 frequent (33%) Frequent (79-30%) HP:0001537
26 broad hallux phalanx 60 33 frequent (33%) Frequent (79-30%) HP:0010059
27 broad thumb 60 33 frequent (33%) Frequent (79-30%) HP:0011304
28 long philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000343
29 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347
30 epicanthus 60 33 frequent (33%) Frequent (79-30%) HP:0000286
31 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
32 low-set, posteriorly rotated ears 60 33 frequent (33%) Frequent (79-30%) HP:0000368
33 upslanted palpebral fissure 60 33 frequent (33%) Frequent (79-30%) HP:0000582
34 elbow dislocation 60 33 frequent (33%) Frequent (79-30%) HP:0003042
35 long palpebral fissure 60 33 frequent (33%) Frequent (79-30%) HP:0000637
36 proptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000520
37 long eyelashes 60 33 very rare (1%) Frequent (79-30%) HP:0000527
38 tented upper lip vermilion 60 33 frequent (33%) Frequent (79-30%) HP:0010804
39 rib fusion 60 33 frequent (33%) Frequent (79-30%) HP:0000902
40 fingernail dysplasia 60 33 frequent (33%) Frequent (79-30%) HP:0100798
41 bifid tongue 60 33 very rare (1%) Frequent (79-30%) HP:0010297
42 ankyloglossia 60 33 frequent (33%) Frequent (79-30%) HP:0010296
43 hypoplastic female external genitalia 60 33 frequent (33%) Frequent (79-30%) HP:0012815
44 short neck 60 33 very rare (1%) Occasional (29-5%) HP:0000470
45 finger syndactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0006101
46 ptosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000508
47 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
48 inguinal hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000023
49 recurrent respiratory infections 60 33 occasional (7.5%) Occasional (29-5%) HP:0002205
50 pectus carinatum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000768

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Mouth:
macroglossia
downturned mouth corners (95%)
triangular mouth (86%)
thin upper lip (29%)
gingival hyperplasia (71%)
more
Skin Nails Hair Skin:
nevus flammeus

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

Genitourinary Kidneys:
hydronephrosis
renal duplication (10%)

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

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

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

Genetic Tests for Robinow Syndrome, Autosomal Recessive

Genetic tests related to Robinow Syndrome, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Robinow Syndrome, Autosomal Recessive 30 ROR2

Anatomical Context for Robinow Syndrome, Autosomal Recessive

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

42
Bone, Tongue, Kidney, Eye

Publications for Robinow Syndrome, Autosomal Recessive

Articles related to Robinow Syndrome, Autosomal Recessive:

# Title Authors Year
1
Comment on COVESDEM syndrome. ( 3631143 )
1987
2
Covesdem syndrome. ( 7365769 )
1980
3
Covesdem syndrome. ( 458838 )
1979
4
Recessively inherited costovertebral segmentation defect with mesomelia and peculiar facies (Covesdem syndrome): A new genetic entity? ( 641945 )
1978

Variations for Robinow Syndrome, Autosomal Recessive

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

76
# 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

ClinVar genetic disease variations for Robinow Syndrome, Autosomal Recessive:

6 (show all 30)
# Gene Variation Type Significance SNP ID Assembly Location
1 ROR2 NM_004560.3(ROR2): c.2805C> G (p.Asp935Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs41277835 GRCh37 Chromosome 9, 94485971: 94485971
2 ROR2 NM_004560.3(ROR2): c.2805C> G (p.Asp935Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs41277835 GRCh38 Chromosome 9, 91723689: 91723689
3 ROR2 NM_004560.3(ROR2): c.1959G> A (p.Leu653=) single nucleotide variant Conflicting interpretations of pathogenicity rs144549032 GRCh37 Chromosome 9, 94486817: 94486817
4 ROR2 NM_004560.3(ROR2): c.1959G> A (p.Leu653=) single nucleotide variant Conflicting interpretations of pathogenicity rs144549032 GRCh38 Chromosome 9, 91724535: 91724535
5 ROR2 NM_004560.3(ROR2): c.986G> A (p.Ser329Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs371221714 GRCh37 Chromosome 9, 94493389: 94493389
6 ROR2 NM_004560.3(ROR2): c.986G> A (p.Ser329Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs371221714 GRCh38 Chromosome 9, 91731107: 91731107
7 ROR2 NM_004560.3(ROR2): c.75G> A (p.Leu25=) single nucleotide variant Conflicting interpretations of pathogenicity rs148237260 GRCh37 Chromosome 9, 94712171: 94712171
8 ROR2 NM_004560.3(ROR2): c.75G> A (p.Leu25=) single nucleotide variant Conflicting interpretations of pathogenicity rs148237260 GRCh38 Chromosome 9, 91949889: 91949889
9 ROR2 NM_004560.3(ROR2): c.2080T> C (p.Cys694Arg) single nucleotide variant Uncertain significance rs142386992 GRCh37 Chromosome 9, 94486696: 94486696
10 ROR2 NM_004560.3(ROR2): c.2080T> C (p.Cys694Arg) single nucleotide variant Uncertain significance rs142386992 GRCh38 Chromosome 9, 91724414: 91724414
11 ROR2 NM_004560.3(ROR2): c.1504C> T (p.Gln502Ter) single nucleotide variant Pathogenic rs121909083 GRCh37 Chromosome 9, 94487272: 94487272
12 ROR2 NM_004560.3(ROR2): c.1504C> T (p.Gln502Ter) single nucleotide variant Pathogenic rs121909083 GRCh38 Chromosome 9, 91724990: 91724990
13 ROR2 NM_004560.3(ROR2): c.550C> T (p.Arg184Cys) single nucleotide variant Pathogenic rs121909084 GRCh37 Chromosome 9, 94499745: 94499745
14 ROR2 NM_004560.3(ROR2): c.550C> T (p.Arg184Cys) single nucleotide variant Pathogenic rs121909084 GRCh38 Chromosome 9, 91737463: 91737463
15 ROR2 NM_004560.3(ROR2): c.2160G> A (p.Trp720Ter) single nucleotide variant Pathogenic rs121909085 GRCh37 Chromosome 9, 94486616: 94486616
16 ROR2 NM_004560.3(ROR2): c.2160G> A (p.Trp720Ter) single nucleotide variant Pathogenic rs121909085 GRCh38 Chromosome 9, 91724334: 91724334
17 ROR2 NM_004560.3(ROR2): c.613C> T (p.Arg205Ter) single nucleotide variant Pathogenic rs121909086 GRCh37 Chromosome 9, 94499682: 94499682
18 ROR2 NM_004560.3(ROR2): c.613C> T (p.Arg205Ter) single nucleotide variant Pathogenic rs121909086 GRCh38 Chromosome 9, 91737400: 91737400
19 ROR2 NM_004560.3(ROR2): c.1321_1325delCGGCG (p.Arg441Thrfs) deletion Pathogenic rs863223290 GRCh37 Chromosome 9, 94488884: 94488888
20 ROR2 NM_004560.3(ROR2): c.1321_1325delCGGCG (p.Arg441Thrfs) deletion Pathogenic rs863223290 GRCh38 Chromosome 9, 91726602: 91726606
21 ROR2 NM_004560.3(ROR2): c.1937_1943delACAAGCT (p.Tyr646Cysfs) deletion Pathogenic rs863223291 GRCh37 Chromosome 9, 94486833: 94486839
22 ROR2 NM_004560.3(ROR2): c.1937_1943delACAAGCT (p.Tyr646Cysfs) deletion Pathogenic rs863223291 GRCh38 Chromosome 9, 91724551: 91724557
23 ROR2 NM_004560.3(ROR2): c.355C> T (p.Arg119Ter) single nucleotide variant Pathogenic rs121909087 GRCh37 Chromosome 9, 94519662: 94519662
24 ROR2 NM_004560.3(ROR2): c.355C> T (p.Arg119Ter) single nucleotide variant Pathogenic rs121909087 GRCh38 Chromosome 9, 91757380: 91757380
25 ROR2 NG_008089.1: g.218534_227384del8851 deletion Pathogenic GRCh38 Chromosome 9, 91727779: 91736629
26 ROR2 NG_008089.1: g.218534_227384del8851 deletion Pathogenic GRCh37 Chromosome 9, 94490061: 94498911
27 ROR2 NM_004560.3(ROR2): c.1324C> T (p.Arg442Ter) single nucleotide variant Pathogenic rs267607016 GRCh37 Chromosome 9, 94488885: 94488885
28 ROR2 NM_004560.3(ROR2): c.1324C> T (p.Arg442Ter) single nucleotide variant Pathogenic rs267607016 GRCh38 Chromosome 9, 91726603: 91726603
29 ROR2 NM_004560.3(ROR2): c.2151_2152insGCTGCCTTGCCCCGATGACTGT (p.Pro718Alafs) insertion Pathogenic rs886042428 GRCh37 Chromosome 9, 94486624: 94486625
30 ROR2 NM_004560.3(ROR2): c.2151_2152insGCTGCCTTGCCCCGATGACTGT (p.Pro718Alafs) insertion Pathogenic rs886042428 GRCh38 Chromosome 9, 91724342: 91724343

Expression for Robinow Syndrome, Autosomal Recessive

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

Pathways for Robinow Syndrome, Autosomal Recessive

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.26 IARS KARS MT-TN MT-TY RARS2

GO Terms for Robinow Syndrome, Autosomal Recessive

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.02 HSPD1 KARS MRRF RAD51 RARS2
2 aminoacyl-tRNA synthetase multienzyme complex GO:0017101 8.96 IARS KARS

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

# Name GO ID Score Top Affiliating Genes
1 embryonic digit morphogenesis GO:0042733 9.33 LMBR1 ROR2 TWIST1
2 positive regulation of macrophage activation GO:0043032 9.26 HSPD1 KARS
3 tRNA aminoacylation for protein translation GO:0006418 9.13 IARS KARS RARS2
4 positive regulation of interleukin-6 secretion GO:2000778 9.02 TWIST1
5 translation GO:0006412 9.02 IARS KARS MRRF RARS2 RPS12

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

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.56 IARS KARS RAD51 SLC22A4
2 ATP binding GO:0005524 9.5 HSPD1 IARS KARS RAD51 RARS2 ROR2
3 ligase activity GO:0016874 9.33 IARS KARS RARS2
4 aminoacyl-tRNA ligase activity GO:0004812 8.8 IARS KARS RARS2

Sources for Robinow Syndrome, Autosomal Recessive

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11 DGIdb
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20 FMA
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