NSLL
MCID: NNN022
MIFTS: 39

Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia (NSLL)

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

Aliases & Classifications for Noonan Syndrome-Like Disorder with or Without Juvenile...

MalaCards integrated aliases for Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia:

Name: Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia 57 75 29 6 73
Cbl Syndrome 57 59 37
Noonan Syndrome-Like Disorder with Juvenile Myelomonocytic Leukemia 59 6
Nsll 57 75
Noonan Syndrome-Like Disorder with Jmml 59
Cbl Mutation-Associated Syndrome 57

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype


HPO:

32
noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Noonan Syndrome-Like Disorder with or Without Juvenile...

OMIM : 57 Noonan syndrome-like disorder is a developmental disorder resembling Noonan syndrome (NS1; 163950) and characterized by facial dysmorphism, a wide spectrum of cardiac disease, reduced growth, variable cognitive deficits, and ectodermal and musculoskeletal anomalies. There is extensive phenotypic heterogeneity and variable expressivity (summary by Martinelli et al., 2010). Patients with heterozygous germline CBL mutations have an increased risk for certain malignancies, particularly juvenile myelomonocytic leukemia (JMML; 607785), as also seen in patients with Noonan syndrome (summary by Niemeyer et al., 2010). (613563)

MalaCards based summary : Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia, also known as cbl syndrome, is related to leukemia, acute myeloid and leukemia. An important gene associated with Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia is CBL (Cbl Proto-Oncogene), and among its related pathways/superpathways are ErbB signaling pathway and Endocytosis. Affiliated tissues include heart and myeloid, and related phenotypes are hypertelorism and low-set ears

UniProtKB/Swiss-Prot : 75 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia: A syndrome characterized by a phenotype reminiscent of Noonan syndrome. Clinical features are highly variable, including facial dysmorphism, short neck, developmental delay, hyperextensible joints and thorax abnormalities with widely spaced nipples. The facial features consist of triangular face with hypertelorism, large low-set ears, ptosis, and flat nasal bridge. Some patients manifest cardiac defects. Some have an increased risk for certain malignancies, particularly juvenile myelomonocytic leukemia.

Related Diseases for Noonan Syndrome-Like Disorder with or Without Juvenile...

Diseases related to Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 leukemia, acute myeloid 9.8
2 leukemia 9.8
3 myeloid leukemia 9.8
4 splenomegaly 9.8
5 juvenile myelomonocytic leukemia 9.7 CBL PTPN11
6 hematologic cancer 9.6 CBL PTPN11

Graphical network of the top 20 diseases related to Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia:



Diseases related to Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia

Symptoms & Phenotypes for Noonan Syndrome-Like Disorder with or Without Juvenile...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
ptosis
downslanting palpebral fissures

Head And Neck Neck:
short neck
webbed neck

Head And Neck Face:
frontal bossing
long philtrum
triangular face

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal:
joint laxity

Head And Neck Mouth:
thick lips

Cardiovascular Heart:
aortic stenosis
congenital heart defects
mitral insufficiency

Growth Height:
short stature (in some patients)

Skin Nails Hair Hair:
thin hair

Cardiovascular Vascular:
chylothorax (in some patients)

Neoplasia:
increased susceptibility to juvenile myelomonocytic leukemia

Head And Neck Ears:
low-set ears
large ears

Chest External Features:
pectus excavatum

Head And Neck Nose:
depressed nasal bridge

Skeletal Limbs:
cubitus valgus

Muscle Soft Tissue:
hypotonia

Chest Breasts:
widely spaced nipples

Neurologic Central Nervous System:
language delay
delayed psychomotor development, mild

Skin Nails Hair Skin:
cafe-au-lait spots
lymphedema (in some patients)

Prenatal Manifestations Amniotic Fluid:
polyhydramnios (in some patients)
fetal hydrops (in some patients)

Respiratory Lung:
pleural effusions due to chylothorax (in some patients)


Clinical features from OMIM:

613563

Human phenotypes related to Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia:

32 (show all 35)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 low-set ears 32 HP:0000369
3 short neck 32 HP:0000470
4 pectus excavatum 32 HP:0000767
5 frontal bossing 32 HP:0002007
6 ptosis 32 HP:0000508
7 macrotia 32 HP:0000400
8 global developmental delay 32 HP:0001263
9 depressed nasal bridge 32 HP:0005280
10 delayed speech and language development 32 HP:0000750
11 thick vermilion border 32 HP:0012471
12 short stature 32 occasional (7.5%) HP:0004322
13 long philtrum 32 HP:0000343
14 epicanthus 32 HP:0000286
15 cryptorchidism 32 HP:0000028
16 lymphedema 32 occasional (7.5%) HP:0001004
17 cubitus valgus 32 HP:0002967
18 wide intermamillary distance 32 HP:0006610
19 webbed neck 32 HP:0000465
20 bicuspid aortic valve 32 HP:0001647
21 joint laxity 32 HP:0001388
22 mitral regurgitation 32 HP:0001653
23 joint hypermobility 32 HP:0001382
24 downslanted palpebral fissures 32 HP:0000494
25 polyhydramnios 32 occasional (7.5%) HP:0001561
26 deep philtrum 32 HP:0002002
27 fine hair 32 HP:0002213
28 triangular face 32 HP:0000325
29 sparse hair 32 HP:0008070
30 generalized hypotonia 32 HP:0001290
31 aortic valve stenosis 32 HP:0001650
32 cafe-au-lait spot 32 HP:0000957
33 chylothorax 32 occasional (7.5%) HP:0010310
34 posteriorly rotated ears 32 HP:0000358
35 juvenile myelomonocytic leukemia 32 HP:0012209

GenomeRNAi Phenotypes related to Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia according to GeneCards Suite gene sharing:

26 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-118 9.6 PTPN11
2 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.6 PTPN11
3 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.6 CBL
4 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.6 CBL
5 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.6 PTPN11
6 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.6 CBL PTPN11
7 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.6 CBL
8 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.6 PTPN11
9 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.6 CBL
10 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.6 PTPN11
11 Increased shRNA abundance (Z-score > 2) GR00366-A-201 9.6 CBL
12 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.6 CBL
13 Increased shRNA abundance (Z-score > 2) GR00366-A-37 9.6 PTPN11
14 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.6 CBL
15 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.6 PTPN11
16 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.6 PTPN11
17 Increased shRNA abundance (Z-score > 2) GR00366-A-78 9.6 PTPN11
18 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.6 CBL

Drugs & Therapeutics for Noonan Syndrome-Like Disorder with or Without Juvenile...

Search Clinical Trials , NIH Clinical Center for Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia

Genetic Tests for Noonan Syndrome-Like Disorder with or Without Juvenile...

Genetic tests related to Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia:

# Genetic test Affiliating Genes
1 Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia 29 CBL

Anatomical Context for Noonan Syndrome-Like Disorder with or Without Juvenile...

MalaCards organs/tissues related to Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia:

41
Heart, Myeloid

Publications for Noonan Syndrome-Like Disorder with or Without Juvenile...

Articles related to Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia:

# Title Authors Year
1
A case of splenomegaly in CBL syndrome. ( 28414188 )
2017
2
Tracing the development of acute myeloid leukemia in CBL syndrome. ( 24493670 )
2014

Variations for Noonan Syndrome-Like Disorder with or Without Juvenile...

UniProtKB/Swiss-Prot genetic disease variations for Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia:

75
# Symbol AA change Variation ID SNP ID
1 CBL p.Gln367Pro VAR_064332 rs267606704
2 CBL p.Lys382Glu VAR_064333 rs267606705
3 CBL p.Asp390Tyr VAR_064334 rs267606707
4 CBL p.Arg420Gln VAR_064335 rs267606708

ClinVar genetic disease variations for Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia:

6 (show top 50) (show all 51)
# Gene Variation Type Significance SNP ID Assembly Location
1 PTPN11 NM_002834.4(PTPN11): c.836A> G (p.Tyr279Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918456 GRCh37 Chromosome 12, 112910827: 112910827
2 PTPN11 NM_002834.4(PTPN11): c.836A> G (p.Tyr279Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918456 GRCh38 Chromosome 12, 112473023: 112473023
3 CBL NM_005188.3(CBL): c.1100A> C (p.Gln367Pro) single nucleotide variant Pathogenic rs267606704 GRCh37 Chromosome 11, 119148880: 119148880
4 CBL NM_005188.3(CBL): c.1100A> C (p.Gln367Pro) single nucleotide variant Pathogenic rs267606704 GRCh38 Chromosome 11, 119278170: 119278170
5 CBL NM_005188.3(CBL): c.1144A> G (p.Lys382Glu) single nucleotide variant Pathogenic rs267606705 GRCh37 Chromosome 11, 119148924: 119148924
6 CBL NM_005188.3(CBL): c.1144A> G (p.Lys382Glu) single nucleotide variant Pathogenic rs267606705 GRCh38 Chromosome 11, 119278214: 119278214
7 CBL NM_005188.3(CBL): c.1168G> T (p.Asp390Tyr) single nucleotide variant Pathogenic rs267606707 GRCh37 Chromosome 11, 119148948: 119148948
8 CBL NM_005188.3(CBL): c.1168G> T (p.Asp390Tyr) single nucleotide variant Pathogenic rs267606707 GRCh38 Chromosome 11, 119278238: 119278238
9 CBL NM_005188.3(CBL): c.1259G> A (p.Arg420Gln) single nucleotide variant Pathogenic rs267606708 GRCh37 Chromosome 11, 119149251: 119149251
10 CBL NM_005188.3(CBL): c.1259G> A (p.Arg420Gln) single nucleotide variant Pathogenic rs267606708 GRCh38 Chromosome 11, 119278541: 119278541
11 CBL NM_005188.3(CBL): c.1111T> C (p.Tyr371His) single nucleotide variant Pathogenic rs267606706 GRCh37 Chromosome 11, 119148891: 119148891
12 CBL NM_005188.3(CBL): c.1111T> C (p.Tyr371His) single nucleotide variant Pathogenic rs267606706 GRCh38 Chromosome 11, 119278181: 119278181
13 CBL CBL, IVS8AS, A-G, -2 single nucleotide variant Pathogenic
14 CBL NM_005188.3(CBL): c.1150T> C (p.Cys384Arg) single nucleotide variant Pathogenic/Likely pathogenic rs387906664 GRCh37 Chromosome 11, 119148930: 119148930
15 CBL NM_005188.3(CBL): c.1150T> C (p.Cys384Arg) single nucleotide variant Pathogenic/Likely pathogenic rs387906664 GRCh38 Chromosome 11, 119278220: 119278220
16 CBL NM_005188.3(CBL): c.1186T> C (p.Cys396Arg) single nucleotide variant Pathogenic rs387906665 GRCh37 Chromosome 11, 119148966: 119148966
17 CBL NM_005188.3(CBL): c.1186T> C (p.Cys396Arg) single nucleotide variant Pathogenic rs387906665 GRCh38 Chromosome 11, 119278256: 119278256
18 CBL NM_005188.3(CBL): c.1112A> G (p.Tyr371Cys) single nucleotide variant Pathogenic rs387906666 GRCh37 Chromosome 11, 119148892: 119148892
19 CBL NM_005188.3(CBL): c.1112A> G (p.Tyr371Cys) single nucleotide variant Pathogenic rs387906666 GRCh38 Chromosome 11, 119278182: 119278182
20 CBL NM_005188.3(CBL): c.2345C> T (p.Pro782Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs2229073 GRCh37 Chromosome 11, 119169161: 119169161
21 CBL NM_005188.3(CBL): c.2345C> T (p.Pro782Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs2229073 GRCh38 Chromosome 11, 119298451: 119298451
22 CBL NM_005188.3(CBL): c.1096-1G> C single nucleotide variant Pathogenic rs397517076 GRCh37 Chromosome 11, 119148875: 119148875
23 CBL NM_005188.3(CBL): c.1096-1G> C single nucleotide variant Pathogenic rs397517076 GRCh38 Chromosome 11, 119278165: 119278165
24 CBL NM_005188.3(CBL): c.1096-4_1096-1delAAAG deletion Pathogenic/Likely pathogenic rs397517077 GRCh37 Chromosome 11, 119148872: 119148875
25 CBL NM_005188.3(CBL): c.1096-4_1096-1delAAAG deletion Pathogenic/Likely pathogenic rs397517077 GRCh38 Chromosome 11, 119278162: 119278165
26 CBL NM_005188.3(CBL): c.1095+19G> T single nucleotide variant Benign rs2510152 GRCh37 Chromosome 11, 119148573: 119148573
27 CBL NM_005188.3(CBL): c.1095+19G> T single nucleotide variant Benign rs2510152 GRCh38 Chromosome 11, 119277863: 119277863
28 CBL NM_005188.3(CBL): c.1463C> T (p.Ala488Val) single nucleotide variant Uncertain significance rs377502790 GRCh37 Chromosome 11, 119155710: 119155710
29 CBL NM_005188.3(CBL): c.1463C> T (p.Ala488Val) single nucleotide variant Uncertain significance rs377502790 GRCh38 Chromosome 11, 119285000: 119285000
30 CBL NM_005188.3(CBL): c.1711G> A (p.Asp571Asn) single nucleotide variant not provided rs483352825 GRCh38 Chromosome 11, 119285336: 119285336
31 CBL NM_005188.3(CBL): c.1711G> A (p.Asp571Asn) single nucleotide variant not provided rs483352825 GRCh37 Chromosome 11, 119156046: 119156046
32 CBL NM_005188.3(CBL): c.1754G> T (p.Arg585Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs727504640 GRCh38 Chromosome 11, 119285379: 119285379
33 CBL NM_005188.3(CBL): c.1754G> T (p.Arg585Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs727504640 GRCh37 Chromosome 11, 119156089: 119156089
34 CBL NM_005188.3(CBL): c.1099C> A (p.Gln367Lys) single nucleotide variant Likely pathogenic rs727504504 GRCh38 Chromosome 11, 119278169: 119278169
35 CBL NM_005188.3(CBL): c.1099C> A (p.Gln367Lys) single nucleotide variant Likely pathogenic rs727504504 GRCh37 Chromosome 11, 119148879: 119148879
36 CBL NM_005188.3(CBL): c.1228-2A> G single nucleotide variant Conflicting interpretations of pathogenicity rs727504426 GRCh38 Chromosome 11, 119278508: 119278508
37 CBL NM_005188.3(CBL): c.1228-2A> G single nucleotide variant Conflicting interpretations of pathogenicity rs727504426 GRCh37 Chromosome 11, 119149218: 119149218
38 CBL NM_005188.3(CBL): c.1096-1G> T single nucleotide variant Pathogenic rs397517076 GRCh37 Chromosome 11, 119148875: 119148875
39 CBL NM_005188.3(CBL): c.1096-1G> T single nucleotide variant Pathogenic rs397517076 GRCh38 Chromosome 11, 119278165: 119278165
40 CBL NM_005188.3(CBL): c.405G> C (p.Glu135Asp) single nucleotide variant Uncertain significance rs1057519030 GRCh38 Chromosome 11, 119232657: 119232657
41 CBL NM_005188.3(CBL): c.405G> C (p.Glu135Asp) single nucleotide variant Uncertain significance rs1057519030 GRCh37 Chromosome 11, 119103367: 119103367
42 CBL NM_005188.3(CBL): c.1945A> G (p.Met649Val) single nucleotide variant Uncertain significance rs769423231 GRCh38 Chromosome 11, 119287855: 119287855
43 CBL NM_005188.3(CBL): c.1945A> G (p.Met649Val) single nucleotide variant Uncertain significance rs769423231 GRCh37 Chromosome 11, 119158565: 119158565
44 CBL NM_005188.3(CBL): c.2097G> A (p.Glu699=) single nucleotide variant Likely benign rs1057519031 GRCh38 Chromosome 11, 119296978: 119296978
45 CBL NM_005188.3(CBL): c.2097G> A (p.Glu699=) single nucleotide variant Likely benign rs1057519031 GRCh37 Chromosome 11, 119167688: 119167688
46 CBL NM_005188.3(CBL): c.93C> A (p.Asp31Glu) single nucleotide variant Uncertain significance rs376679438 GRCh38 Chromosome 11, 119206510: 119206510
47 CBL NM_005188.3(CBL): c.93C> A (p.Asp31Glu) single nucleotide variant Uncertain significance rs376679438 GRCh37 Chromosome 11, 119077220: 119077220
48 CBL NM_005188.3(CBL): c.1099_1101delCAA (p.Gln367del) deletion Uncertain significance GRCh37 Chromosome 11, 119148879: 119148881
49 CBL NM_005188.3(CBL): c.1099_1101delCAA (p.Gln367del) deletion Uncertain significance GRCh38 Chromosome 11, 119278169: 119278171
50 CBL NM_005188.3(CBL): c.1112A> C (p.Tyr371Ser) single nucleotide variant Pathogenic rs387906666 GRCh37 Chromosome 11, 119148892: 119148892

Expression for Noonan Syndrome-Like Disorder with or Without Juvenile...

Search GEO for disease gene expression data for Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia.

Pathways for Noonan Syndrome-Like Disorder with or Without Juvenile...

Pathways related to Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia according to KEGG:

37
# Name Kegg Source Accession
1 ErbB signaling pathway hsa04012
2 Endocytosis hsa04144

Pathways related to Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia according to GeneCards Suite gene sharing:

(show all 30)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.18 CBL PTPN11
2
Show member pathways
12.17 CBL PTPN11
3
Show member pathways
12.16 CBL PTPN11
4
Show member pathways
12.11 CBL PTPN11
5
Show member pathways
12.1 CBL PTPN11
6
Show member pathways
12.07 CBL PTPN11
7
Show member pathways
12.06 CBL PTPN11
8
Show member pathways
12.02 CBL PTPN11
9
Show member pathways
12.01 CBL PTPN11
10
Show member pathways
11.98 CBL PTPN11
11
Show member pathways
11.96 CBL PTPN11
12
Show member pathways
11.92 CBL PTPN11
13
Show member pathways
11.9 CBL PTPN11
14
Show member pathways
11.89 CBL PTPN11
15 11.85 CBL PTPN11
16
Show member pathways
11.82 CBL PTPN11
17
Show member pathways
11.82 CBL PTPN11
18 11.74 CBL PTPN11
19
Show member pathways
11.72 CBL PTPN11
20
Show member pathways
11.67 CBL PTPN11
21
Show member pathways
11.6 CBL PTPN11
22
Show member pathways
11.49 CBL PTPN11
23
Show member pathways
11.42 CBL PTPN11
24
Show member pathways
11.37 CBL PTPN11
25
Show member pathways
11.13 CBL PTPN11
26 11.06 CBL PTPN11
27 10.99 CBL PTPN11
28 10.83 CBL PTPN11
29 10.62 CBL PTPN11
30 10.26 CBL PTPN11

GO Terms for Noonan Syndrome-Like Disorder with or Without Juvenile...

Biological processes related to Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.32 CBL PTPN11
2 fibroblast growth factor receptor signaling pathway GO:0008543 9.26 CBL PTPN11
3 epidermal growth factor receptor signaling pathway GO:0007173 9.16 CBL PTPN11
4 cellular response to epidermal growth factor stimulus GO:0071364 8.96 CBL PTPN11
5 interleukin-6-mediated signaling pathway GO:0070102 8.62 CBL PTPN11

Molecular functions related to Noonan Syndrome-Like Disorder with or Without Juvenile Myelomonocytic Leukemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor tyrosine kinase binding GO:0030971 9.16 CBL PTPN11
2 phosphotyrosine residue binding GO:0001784 8.96 CBL PTPN11
3 protein tyrosine kinase binding GO:1990782 8.62 CBL PTPN11

Sources for Noonan Syndrome-Like Disorder with or Without Juvenile...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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