Aliases & Classifications for Hypertelorism

MalaCards integrated aliases for Hypertelorism:

Name: Hypertelorism 57 29 6 32

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
hypertelorism:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 145400
ICD10 32 Q75.2
MedGen 41 C0020534
SNOMED-CT via HPO 68 194021007 22006008 263681008

Summaries for Hypertelorism

OMIM® : 57 Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (145410), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995). (145400) (Updated 05-Apr-2021)

MalaCards based summary : Hypertelorism is related to strabismus and farsightedness. An important gene associated with Hypertelorism is NSD1 (Nuclear Receptor Binding SET Domain Protein 1), and among its related pathways/superpathways is Central carbon metabolism in cancer. The drugs Simvastatin and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include eye, heart and bone, and related phenotypes are hypertelorism and craniofacial

Wikipedia : 73 Hypertelorism is an abnormally increased distance between two organs or bodily parts, usually referring... more...

Related Diseases for Hypertelorism

Diseases related to Hypertelorism via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 468)
# Related Disease Score Top Affiliating Genes
1 strabismus 30.2 POGZ MED13L FGFR2 COL11A1
2 farsightedness 30.1 NSD1 ANKRD11
3 esotropia 29.9 TFAP2A COL11A1 ANKRD11
4 patent ductus arteriosus 1 29.9 TFAP2A NSD1 ELN
5 inguinal hernia 29.8 ELN COL1A1 CEMIP2
6 vesicoureteral reflux 1 29.6 RET MED13L FGFR2
7 seizure disorder 29.6 SCN1A POGZ NSD1 LOC102724058 ANKRD11
8 scoliosis 29.5 NSD1 MED13L FGFR2 ELN COL1A1
9 alacrima, achalasia, and mental retardation syndrome 28.9 SCN1A POGZ NSD1 MED13L LOC102724058 DUSP29
10 hypertelorism, teebi type 11.5
11 donnai-barrow syndrome 11.5
12 hypertelorism, microtia, facial clefting syndrome 11.4
13 opitz-gbbb syndrome 11.4
14 opitz gbbb syndrome, type ii 11.4
15 opitz gbbb syndrome, type i 11.3
16 baraitser-winter syndrome 1 11.3
17 elsahy-waters syndrome 11.3
18 acrofrontofacionasal dysostosis 2 11.3
19 hamamy syndrome 11.3
20 intellectual developmental disorder with hypertelorism and distinctive facies 11.3
21 baraitser-winter syndrome 11.3
22 craniofacial-deafness-hand syndrome 11.2
23 noonan syndrome with multiple lentigines 11.2
24 hypertelorism, preauricular sinus, punctal pits, and deafness 11.2
25 saethre-chotzen syndrome 11.2
26 gastrocutaneous syndrome 11.2
27 intellectual deficit - short stature - hypertelorism 11.2
28 hartsfield syndrome 11.1
29 craniofrontonasal syndrome 11.1
30 hypertelorism and tetralogy of fallot 11.1
31 wolf-hirschhorn syndrome 11.1
32 mandibulofacial dysostosis with macroblepharon and macrostomia 11.1
33 seaver cassidy syndrome 11.1
34 frontonasal dysplasia 1 11.1
35 greig cephalopolysyndactyly syndrome 11.0
36 gillessen-kaesbach-nishimura syndrome 11.0
37 krauss herman holmes syndrome 11.0
38 intellectual disability-short stature-hypertelorism syndrome 11.0
39 lateral meningocele syndrome 11.0
40 ritscher-schinzel syndrome 1 11.0
41 frank-ter haar syndrome 11.0
42 keipert syndrome 11.0
43 loeys-dietz syndrome 11.0
44 sotos syndrome 1 10.9
45 acromelic frontonasal dysostosis 10.9
46 telecanthus 10.9
47 larsen syndrome 10.9
48 cleft, median, of upper lip with polyps of facial skin and nasal mucosa 10.9
49 neu-laxova syndrome 1 10.9
50 weaver syndrome 10.9

Graphical network of the top 20 diseases related to Hypertelorism:



Diseases related to Hypertelorism

Symptoms & Phenotypes for Hypertelorism

Human phenotypes related to Hypertelorism:

31
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 HP:0000316

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Eyes:
hypertelorism

Clinical features from OMIM®:

145400 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Hypertelorism:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.02 AMOTL1 ANKRD11 COL11A1 COL1A1 EFNB1 FGFR2
2 embryo MP:0005380 9.96 ANKRD11 COL11A1 COL1A1 EFNB1 FGFR2 MYH10
3 digestive/alimentary MP:0005381 9.87 COL11A1 COL1A1 EFNB1 FGFR2 RET RIT1
4 mortality/aging MP:0010768 9.8 AMOTL1 ANKRD11 COL11A1 COL1A1 EFNB1 FGFR2
5 hearing/vestibular/ear MP:0005377 9.63 ANKRD11 COL11A1 COL1A1 EFNB1 FGFR2 TFAP2A
6 respiratory system MP:0005388 9.17 COL11A1 COL1A1 EFNB1 FGFR2 RET SCN1A

Drugs & Therapeutics for Hypertelorism

Drugs for Hypertelorism (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simvastatin Approved Phase 2 79902-63-9 54454
2
tannic acid Approved Phase 1, Phase 2 1401-55-4
3
Benzocaine Approved, Investigational Phase 1, Phase 2 1994-09-7, 94-09-7 2337
4 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
5 Anticholesteremic Agents Phase 2
6 Antimetabolites Phase 2
7 Lipid Regulating Agents Phase 2
8 Hypolipidemic Agents Phase 2
9 Protective Agents Phase 2
10 Antioxidants Phase 2
11 Anesthetics Phase 2
12 Cholic Acids Phase 1, Phase 2
13 Gastrointestinal Agents Phase 1, Phase 2
14 Phytosterol

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 The Effects of Dietary Cholesterol in the Smith-Lemli-Opitz Syndrome Unknown status NCT00004347 Phase 2
2 Investigation of Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2 Simvastatin Susp.;OraPlus
3 Short-Term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
4 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2 crystalline cholesterol oil-based suspension
5 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
6 Smith-Lemli-Opitz Syndrome: A Pilot Study of Cholic Acid Supplementation Not yet recruiting NCT03720990 Phase 1, Phase 2 Cholic Acid
7 Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans Completed NCT00017732
8 Clinical and Basic Investigations Into Smith-Lemli-Opitz Syndrome Completed NCT00001721
9 The Feasibility of Screening for Smith-Lemli-Opitz Syndrome Completed NCT00070850
10 Identification of Mutations That Lead to Craniometaphyseal Dysplasia in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms Recruiting NCT01630460
11 Smith-Lemli-Opitz Syndrome: A Longitudinal Clinical Study of Patients Receiving Cholesterol Supplementation Terminated NCT01356420
12 Smith-Lemli-Opitz Syndrome: A Longitudinal Clinical Study of Patients Receiving Cholesterol Supplementation Withdrawn NCT01413425

Search NIH Clinical Center for Hypertelorism

Genetic Tests for Hypertelorism

Genetic tests related to Hypertelorism:

# Genetic test Affiliating Genes
1 Hypertelorism 29

Anatomical Context for Hypertelorism

MalaCards organs/tissues related to Hypertelorism:

40
Eye, Heart, Bone, Skin, Brain, Pituitary, Cerebellum

Publications for Hypertelorism

Articles related to Hypertelorism:

(show top 50) (show all 2237)
# Title Authors PMID Year
1
Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation. 6 61
31568861 2020
2
Hypertelorism: interorbital growth, measurements, and pathogenetic considerations. 57 61
8636632 1995
3
Hypertelorism in Several Generations. 61 57
21031712 1927
4
Further confirmation of the MED13L haploinsufficiency syndrome. 6
24781760 2015
5
Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. 6
23403903 2013
6
Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries). 6
14638541 2003
7
[Physiological euryopia and pathological hypertelorismus ocularis]. 57
13206986 1954
8
[A Newborn Suffering from Arhinia: Neonatologic Challenges During Primary Care of the Newborn With Bosma Arhinia Microphthalmia Syndrome (BAMS)]. 61
33784779 2021
9
A Case Report of Donnai-Barrow Syndrome. 61
32657950 2021
10
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome. 61
33811546 2021
11
Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutations. 61
33571694 2021
12
Evaluation of fronto-orbital reconstruction surgery for the treatment of metopic synostosis in Chinese population. 61
33404707 2021
13
Association of mutation in PTPN14 gene and gingival fibromatosis with distinctive facies: a novel finding in whole exome sequencing. 61
33491997 2021
14
Dental and Craniofacial Characteristics in Patients With 14Q22.1-Q22.2 Deletion: A Case Series. 61
33063524 2021
15
Wiedemann-Steiner Syndrome as a Differential Diagnosis of Cornelia de Lange Syndrome Using Targeted Next-Generation Sequencing: A Case Report. 61
33776627 2021
16
An orthodontic perspective on Larsen syndrome. 61
33691679 2021
17
Prenatal Diagnosis of Acromelic Frontonasal Dysostosis. 61
33776626 2021
18
Maxillary Changes Following Facial Bipartition - A Three-Dimensional Quantification. 61
33770039 2021
19
MASP1-related 3MC syndrome in a patient from Turkey. 61
33765348 2021
20
An Extended 45-year Long-term Follow-up on a 1-13 Rare Facial Cleft Patient. 61
33770026 2021
21
Distinctive facial features in Andersen-Tawil syndrome: A three-dimensional stereophotogrammetric analysis. 61
33369085 2021
22
Early diagnosis of MECP2 duplication syndrome: Insights from a nationwide survey in Japan. 61
33516938 2021
23
Polymicrogyria with calcification in Pallister-Killian syndrome detected by microarray analysis. 61
33229101 2021
24
Palatoplasty for the Patient With Campomelic Dysplasia-Report of a Case and Review of the Literature. 61
33576275 2021
25
Dual diagnosis of Ochoa syndrome and Niemann-Pick disease type B in a consanguineous family. 61
33647194 2021
26
Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variants. 61
33231930 2021
27
Bidirectional Ventricular Tachycardia in a Young Female: A Case of Andersen-Tawil Syndrome. 61
33605413 2021
28
Robinow syndrome in a newborn presenting with hydrocephalus and craniosynostosis. 61
33595708 2021
29
Long-Term Photogrammetric- and Panel Assessment-Based Outcome Study of Staged Reconstructive Approach for Hypertelorism Correction. 61
33346538 2021
30
16p11.2 Duplication Syndrome - a Case Report. 61
33650406 2021
31
Orbital Hypertelorism Correction With Inverted-U Osteotomy: Indications and Advantages. 61
33156167 2021
32
Hypertelorism. . .Plus. 61
33495790 2021
33
A critical appraisal of surgical outcomes following orbital hypertelorism correction: what is the incidence of true bony relapse versus soft tissue telecanthus? 61
32964257 2021
34
Loeys-Dietz syndrome associated with a heterozygous mutation in TGFBR2 in a female infant: A case report. 61
33235621 2021
35
[Congenital high airway obstruction syndrome (CHAOS): a case report]. 61
33520070 2021
36
Prenatal diagnosis of familial 22q11.2 deletion syndrome in a pregnancy with concomitant cardiac and urinary tract abnormalities in the fetus and the mother. 61
33494995 2021
37
Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum. 61
32949109 2020
38
Oral-Facial-Digital Syndrome Type IX with Subfoveal Drusenoid Deposit. 61
32765935 2020
39
Peruvian Newborn Male with 3p13 Deletion Syndrome Encompassing the FOXP1 Gene: Review of the Literature. 61
32765932 2020
40
Camptocormia and Other Orthopedic Compromise Dominating Mitochondrial Disorder: A Case Report. 61
33415040 2020
41
Correlations Between Phenotypes and Biological Process Ontologies in Monogenic Human Diseases. 61
33113078 2020
42
Systematic review of anterior congenital cephaloceles: open vs endoscopic repair. 61
32981221 2020
43
Xia-Gibbs Syndrome: A Review of Literature. 61
33520547 2020
44
Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome. 61
32954677 2020
45
Craniofacial phenotypes associated with Robinow syndrome. 61
33237614 2020
46
Familial LEOPARD Syndrome With Hypertrophic Cardiomyopathy. 61
32866449 2020
47
The First Korean Case of Baraitser-Winter Cerebro-Fronto-Facial Syndrome with a Novel Mutation in ACTB Diagnosed Via Targeted Gene Panel Sequencing and Literature Review. 61
33334799 2020
48
How Accurate Is Computer-Assisted Orbital Hypertelorism Surgery? Comparison of the Three-Dimensional Surgical Planning with the Postoperative Outcomes. 61
32654512 2020
49
A novel NFIA gene nonsense mutation in a Chinese patient with macrocephaly, corpus callosum hypoplasia, developmental delay, and dysmorphic features. 61
32926563 2020
50
Prenatal diagnosis of maternal uniparental disomy 5 by amniocentesis associated with confined placental mosaicism for trisomy 5 and fetal trisomy 21 in a pregnancy. 61
33218416 2020

Variations for Hypertelorism

ClinVar genetic disease variations for Hypertelorism:

6 (show all 33)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EFNB1 GRCh37/hg19 Xq13.1(chrX:68058460-68059931) copy number loss Pathogenic 523309 GRCh37: X:68058460-68059931
GRCh38:
2 COL1A1 NM_000088.3(COL1A1):c.1777G>A (p.Gly593Ser) SNV Pathogenic 17326 rs66527965 GRCh37: 17:48270399-48270399
GRCh38: 17:50193038-50193038
3 NSD1 NM_022455.4(NSD1):c.3839G>A (p.Trp1280Ter) SNV Pathogenic 159315 rs587784105 GRCh37: 5:176662864-176662864
GRCh38: 5:177235863-177235863
4 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.3327dup (p.Ser1110fs) Duplication Pathogenic 599005 rs1559193213 GRCh37: 2:166892659-166892660
GRCh38: 2:166036149-166036150
5 MYH10 NM_001256012.2(MYH10):c.4505G>C (p.Arg1502Pro) SNV Pathogenic 625873 rs755969165 GRCh37: 17:8395781-8395781
GRCh38: 17:8492463-8492463
6 MYH10 NM_001256012.2(MYH10):c.4505G>C (p.Arg1502Pro) SNV Pathogenic 625873 rs755969165 GRCh37: 17:8395781-8395781
GRCh38: 17:8492463-8492463
7 CEMIP2 NM_013390.3(CEMIP2):c.1358G>A (p.Cys453Tyr) SNV Pathogenic 827846 GRCh37: 9:74349757-74349757
GRCh38: 9:71734841-71734841
8 CEMIP2 NM_013390.3(CEMIP2):c.3144G>A (p.Trp1048Ter) SNV Pathogenic 827847 GRCh37: 9:74319561-74319561
GRCh38: 9:71704645-71704645
9 ANKRD11 NM_013275.6(ANKRD11):c.5317G>T (p.Glu1773Ter) SNV Pathogenic 242882 rs1114167291 GRCh37: 16:89347633-89347633
GRCh38: 16:89281225-89281225
10 TFAP2A NM_001032280.3(TFAP2A):c.1019_1020del (p.Lys340fs) Deletion Pathogenic 523459 rs1554110735 GRCh37: 6:10398926-10398927
GRCh38: 6:10398693-10398694
11 POGZ NM_015100.4(POGZ):c.2771del (p.Pro924fs) Deletion Pathogenic 523510 rs1553212868 GRCh37: 1:151378740-151378740
GRCh38: 1:151406264-151406264
12 ELN NM_000501.4(ELN):c.1150+1G>A SNV Pathogenic 163391 rs727503030 GRCh37: 7:73469100-73469100
GRCh38: 7:74054770-74054770
13 MED13L t(12;19)(q24.21;q12) Translocation Pathogenic 218934 GRCh37:
GRCh38:
14 PIK3CA NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met) SNV Pathogenic 376498 rs1057519942 GRCh37: 3:178921548-178921548
GRCh38: 3:179203760-179203760
15 MT-ATP6 NC_012920.1:m.8993T>G SNV Pathogenic 9641 rs199476133 GRCh37: MT:8993-8993
GRCh38: MT:8993-8993
16 RET NM_020975.6(RET):c.2753T>C (p.Met918Thr) SNV Pathogenic 13919 rs74799832 GRCh37: 10:43617416-43617416
GRCh38: 10:43121968-43121968
17 ELP4 , PAX6 NM_019040.5(ELP4):c.*6411T>A SNV Likely pathogenic 3474 rs121907922 GRCh37: 11:31811483-31811483
GRCh38: 11:31789935-31789935
18 RPS6KA3 NM_004586.3(RPS6KA3):c.533C>G (p.Ala178Gly) SNV Likely pathogenic 374121 rs1057518914 GRCh37: X:20211665-20211665
GRCh38: X:20193547-20193547
19 MLLT1 NM_005934.4(MLLT1):c.1418G>A (p.Arg473Gln) SNV Likely pathogenic 242890 rs749203329 GRCh37: 19:6213798-6213798
GRCh38: 19:6213787-6213787
20 FGFR2 NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys) SNV Likely pathogenic 13271 rs121918494 GRCh37: 10:123276877-123276877
GRCh38: 10:121517363-121517363
21 NSD1 NM_022455.4(NSD1):c.6050G>A (p.Arg2017Gln) SNV Likely pathogenic 159398 rs587784177 GRCh37: 5:176710828-176710828
GRCh38: 5:177283827-177283827
22 RIT1 NM_006912.6(RIT1):c.67A>C (p.Lys23Gln) SNV Likely pathogenic 224122 rs869312687 GRCh37: 1:155880486-155880486
GRCh38: 1:155910695-155910695
23 AMOTL1 NM_130847.3(AMOTL1):c.479C>T (p.Pro160Leu) SNV Likely pathogenic 929484 GRCh37: 11:94532835-94532835
GRCh38: 11:94799669-94799669
24 DUSP29 , KAT6B NM_012330.4(KAT6B):c.5213C>T (p.Thr1738Ile) SNV Likely pathogenic 523500 rs1554846212 GRCh37: 10:76789795-76789795
GRCh38: 10:75030037-75030037
25 COL11A1 NM_001854.4(COL11A1):c.4048_4065del (p.Ser1350_Pro1355del) Deletion Likely pathogenic 523552 rs1553200431 GRCh37: 1:103377736-103377753
GRCh38: 1:102912180-102912197
26 SLC12A6 NM_001365088.1(SLC12A6):c.752dup (p.Ser252fs) Duplication Likely pathogenic 523557 rs1555380716 GRCh37: 15:34547586-34547587
GRCh38: 15:34255385-34255386
27 FGF14 NM_004115.3(FGF14):c.486dup (p.Arg163fs) Duplication Likely pathogenic 598976 rs1566823361 GRCh37: 13:102379082-102379083
GRCh38: 13:101726732-101726733
28 TFAP2B NM_003221.4(TFAP2B):c.830C>G (p.Ser277Trp) SNV Uncertain significance 374174 rs1057518947 GRCh37: 6:50805696-50805696
GRCh38: 6:50837983-50837983
29 COL5A1 NM_001278074.1(COL5A1):c.3760C>T (p.Pro1254Ser) SNV Uncertain significance 523325 rs1554805125 GRCh37: 9:137704466-137704466
GRCh38: 9:134812620-134812620
30 MID1 NM_000381.4(MID1):c.1765A>G (p.Asn589Asp) SNV Uncertain significance 523364 rs1556001939 GRCh37: X:10417647-10417647
GRCh38: X:10449607-10449607
31 overlap with 31 genes GRCh37/hg19 22q11.21(chr22:18900000-20500000) copy number gain Uncertain significance 523272 GRCh37: 22:18900000-20500000
GRCh38:
32 PIGL NM_004278.4(PIGL):c.176C>A (p.Pro59His) SNV Uncertain significance 374175 rs1057518948 GRCh37: 17:16120716-16120716
GRCh38: 17:16217402-16217402
33 PIGL NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) SNV Uncertain significance 30544 rs145303331 GRCh37: 17:16220000-16220000
GRCh38: 17:16316686-16316686

Expression for Hypertelorism

Search GEO for disease gene expression data for Hypertelorism.

Pathways for Hypertelorism

Pathways related to Hypertelorism according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.64 RET PIK3CA FGFR2

GO Terms for Hypertelorism

Biological processes related to Hypertelorism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.56 PIK3CA FGFR2 CEMIP2 AMOTL1
2 cellular response to retinoic acid GO:0071300 9.33 RET FGFR2 COL1A1
3 response to hyperoxia GO:0055093 9.32 MT-ATP6 COL1A1
4 inner ear morphogenesis GO:0042472 9.13 TFAP2A FGFR2 COL11A1
5 skeletal system morphogenesis GO:0048705 8.92 FGFR2 COL1A1 COL11A1 ANKRD11

Sources for Hypertelorism

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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