LMPHM1
MCID: LYM144
MIFTS: 47

Lymphatic Malformation 1 (LMPHM1)

Categories: Cardiovascular diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Lymphatic Malformation 1

MalaCards integrated aliases for Lymphatic Malformation 1:

Name: Lymphatic Malformation 1 57 73
Milroy Disease 57 25 20 43 58 73
Nonne-Milroy Lymphedema 57 20 43 58 73
Primary Congenital Lymphedema 57 20 73
Hereditary Lymphedema Type I 20 43 58
Nonne-Milroy Disease 20 6
Milroy's Disease 20 43
Lmphm1 57 73
Pcl 57 73
Lymphedema, Hereditary, Ia, Formerly; Lmph1a, Formerly 57
Lymphedema, Hereditary, Type I, Formerly 57
Lymphedema, Hereditary, Ia, Formerly 57
Primary Congenital Lymphedema; Pcl 57
Congenital Hereditary Lymphedema 20
Congenital Familial Lymphedema 43
Congenital Primary Lymphedema 20
Hereditary Lymphedema, Type I 25
Lymphedema Hereditary Type Ia 73
Milroy Congenital Lymphedema 25
Lymphedema, Hereditary, 1a 73
Lymphedema, Early-Onset 57
Hereditary Lymphedema 1 20
Early Onset Lymphedema 20
Lymphedema Early-Onset 73
Hereditary Lymphedema 20
Nonne-Milroy Syndrome 20
Lmph1a, Formerly 57
Nonne's Syndrome 20
Lmph1a 73

Characteristics:

Orphanet epidemiological data:

58
milroy disease
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM®:

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

Miscellaneous:
onset usually at birth
later onset may occur
variable expression and severity
more prevalent in females
spontaneous resorption (rare)
lymphedema that presents at puberty is called meige disease


HPO:

31
lymphatic malformation 1:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


GeneReviews:

25
Penetrance Approximately 85%-90% of individuals who have a pathogenic variant in flt4 develop lower-limb lymphedema by age three years; conversely, 10%-15% of individuals with an flt4 pathogenic variant are clinically unaffected.

Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Lymphatic Malformation 1

MedlinePlus Genetics : 43 Milroy disease is a condition that affects the normal function of the lymphatic system. The lymphatic system produces and transports fluids and immune cells throughout the body. Impaired transport with accumulation of lymph fluid can cause swelling (lymphedema). Individuals with Milroy disease typically have lymphedema in their lower legs and feet at birth or develop it in infancy. The lymphedema typically occurs on both sides of the body and may worsen over time.Milroy disease is associated with other features in addition to lymphedema. Males with Milroy disease are sometimes born with an accumulation of fluid in the scrotum (hydrocele). Males and females may have upslanting toenails, deep creases in the toes, wart-like growths (papillomas), and prominent leg veins. Some individuals develop non-contagious skin infections called cellulitis that can damage the thin tubes that carry lymph fluid (lymphatic vessels). Episodes of cellulitis can cause further swelling in the lower limbs.

MalaCards based summary : Lymphatic Malformation 1, also known as milroy disease, is related to hereditary lymphedema ii and hereditary lymphedema i. An important gene associated with Lymphatic Malformation 1 is FLT4 (Fms Related Receptor Tyrosine Kinase 4), and among its related pathways/superpathways are VEGF Pathway (Qiagen) and RhoGDI Pathway. Affiliated tissues include testis, endothelial and lung, and related phenotypes are hyperkeratosis and cellulitis

GARD : 20 Milroy disease affects the lymphatic system and can lead to swelling (lymphedema) of the legs and feet. Prior to birth, symptoms of Milroy disease may include fluid buildup in the legs and feet and sometimes, within the body (nonimmune hydrops). After birth, symptoms may include swelling of the lower limbs, a buildup of fluid in the scrotum (hydrocele), and skin changes. People with Milroy disease have an increased risk for developing skin infections and certain types of cancer. Milroy disease occurs when the FLT4 gene is not working correctly. It is inherited in an autosomal dominant pattern. The diagnosis of Milroy disease is made based on the symptoms, a clinical exam and other types of testing. The diagnosis may be confirmed by genetic testing. Treatment is focused on managing the symptoms.

OMIM® : 57 Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by Gordon et al., 2013 and Balboa-Beltran et al., 2014). (153100) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 Lymphatic malformation 1: A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM1 is an autosomal dominant form with variable expression and severity. Onset is usually at birth or in early childhood but can occur later. Affected individuals manifest lymphedema, predominantly in the lower limbs, and hypoplasia of lymphatic vessels. Additional features are hemangioma and nail dysplasia or papillomatosis.

GeneReviews: NBK1239

Related Diseases for Lymphatic Malformation 1

Diseases in the Rare Lymphatic Malformation family:

Lymphatic Malformation 1 Lymphatic Malformation 5
Lymphatic Malformation 2 Lymphatic Malformation 3
Lymphatic Malformation 4 Lymphatic Malformation 6
Lymphatic Malformation 7 Lymphatic Malformation 8

Diseases related to Lymphatic Malformation 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 174)
# Related Disease Score Top Affiliating Genes
1 hereditary lymphedema ii 31.9 GJC2 FLT4
2 hereditary lymphedema i 31.8 VEGFC FLT4
3 congenital lymphedema 31.6 VEGFC FLT4
4 hereditary lymphedema 31.6 VEGFC FLT4
5 primary lymphedema 30.1 VEGFC FLT4
6 elephantiasis 29.7 VEGFC FLT4
7 lymphangitis 29.6 VEGFC FLT4
8 lymphangioma 29.4 VEGFC FLT4
9 lymphedema-distichiasis syndrome 29.0 VEGFC GJC2 FLT4
10 plasma cell leukemia 11.5
11 hereditary lymphedema ic 11.4
12 hereditary lymphedema ia 11.3
13 congenital primary lymphedema of gordon 11.3
14 hereditary lymphedema id 11.3
15 hereditary lymphedema ib 11.3
16 lymphatic malformation 5 11.2
17 congenital primary lymphedema without systemic or visceral involvement 11.2
18 yellow nail syndrome 11.0
19 lymphatic malformation 4 11.0
20 lymphatic malformation 8 10.9
21 post-traumatic stress disorder 10.5
22 personality disorder 10.3
23 cellulitis 10.2
24 glioblastoma 10.2
25 glioma 10.1
26 spinal cord injury 10.1
27 glial tumor 10.1
28 chudley-mccullough syndrome 10.1
29 severe combined immunodeficiency 10.1
30 papilloma 10.1
31 hydrocele 10.1
32 osteogenic sarcoma 10.1
33 antisocial personality disorder 10.1
34 avoidant personality disorder 10.1
35 acute stress disorder 10.1
36 breast cancer 10.0
37 colorectal cancer 10.0
38 rheumatoid arthritis 10.0
39 gastric cancer 10.0
40 bone disease 10.0
41 acne 10.0
42 candida glabrata 10.0
43 cholestasis-lymphedema syndrome 10.0
44 gonadal dysgenesis 10.0
45 lymphangiosarcoma 10.0
46 desmoid tumor 9.9
47 sarcoma 9.9
48 nephrotic syndrome 9.9
49 diarrhea 9.9
50 malignant fibrous histiocytoma 9.9

Graphical network of the top 20 diseases related to Lymphatic Malformation 1:



Diseases related to Lymphatic Malformation 1

Symptoms & Phenotypes for Lymphatic Malformation 1

Human phenotypes related to Lymphatic Malformation 1:

58 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperkeratosis 58 31 frequent (33%) Frequent (79-30%) HP:0000962
2 cellulitis 58 31 very rare (1%) Frequent (79-30%) HP:0100658
3 varicose veins 58 31 frequent (33%) Frequent (79-30%) HP:0002619
4 pedal edema 58 31 frequent (33%) Frequent (79-30%) HP:0010741
5 toenail dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0100797
6 predominantly lower limb lymphedema 58 31 very rare (1%) Frequent (79-30%) HP:0003550
7 hydrocele testis 58 31 very rare (1%) Frequent (79-30%) HP:0000034
8 ankle swelling 58 31 frequent (33%) Frequent (79-30%) HP:0001785
9 behavioral abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0000708
10 specific learning disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001328
11 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
12 neoplasm of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0008069
13 lichenification 58 31 occasional (7.5%) Occasional (29-5%) HP:0100725
14 angiosarcoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0200058
15 abnormal facial shape 58 31 very rare (1%) Very rare (<4-1%) HP:0001999
16 erysipelas 58 31 very rare (1%) Very rare (<4-1%) HP:0001055
17 papilloma 31 very rare (1%) HP:0012740
18 urethral stricture 31 very rare (1%) HP:0012227
19 hypoplasia of lymphatic vessels 31 very rare (1%) HP:0003759
20 nonimmune hydrops fetalis 31 very rare (1%) HP:0001790
21 prominent superficial veins 31 very rare (1%) HP:0001015
22 upslanting toenail 31 very rare (1%) HP:0032344
23 lymphedema 58 Very frequent (99-80%)
24 hemangioma 31 HP:0001028
25 abnormal venous morphology 58 Frequent (79-30%)
26 hyperkeratosis over edematous areas 31 HP:0007448

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Cardiovascular Vascular:
hemangioma

Genitourinary External Genitalia Male:
hydrocele

Muscle Soft Tissue:
lymphedema, predominantly in the lower limbs
lymphography shows hypoplasia of lymphatic vessels

Skin Nails Hair Skin:
hemangioma
hyperkeratosis over edematous areas
papillomatosis over edematous areas

Skin Nails Hair Nails:
upturned toenails

Prenatal Manifestations Amniotic Fluid:
non-immune fetal hydrops (rare)

Clinical features from OMIM®:

153100 (Updated 05-Mar-2021)

Drugs & Therapeutics for Lymphatic Malformation 1

Search Clinical Trials , NIH Clinical Center for Lymphatic Malformation 1

Genetic Tests for Lymphatic Malformation 1

Anatomical Context for Lymphatic Malformation 1

MalaCards organs/tissues related to Lymphatic Malformation 1:

40
Testis, Endothelial, Lung, Skin, Tongue

Publications for Lymphatic Malformation 1

Articles related to Lymphatic Malformation 1:

(show top 50) (show all 92)
# Title Authors PMID Year
1
Mutation in vascular endothelial growth factor-C, a ligand for vascular endothelial growth factor receptor-3, is associated with autosomal dominant milroy-like primary lymphedema. 61 25 57 6
23410910 2013
2
Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations. 6 57 25 61
16965327 2006
3
Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema. 57 25 6
12960217 2003
4
Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema. 25 6 57
10835628 2000
5
Hereditary lymphedema: evidence for linkage and genetic heterogeneity. 57 6 25
9817924 1998
6
A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease. 57 6 61
24744435 2014
7
Recessive primary congenital lymphoedema caused by a VEGFR3 mutation. 6 57 61
19289394 2009
8
Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3. 61 6 57
16924388 2006
9
Analysis of the coding regions of VEGFR3 and VEGFC in Milroy disease and other primary lymphoedemas. 25 57 61
19002718 2009
10
Milroy disease and the VEGFR-3 mutation phenotype. 61 25 57
15689446 2005
11
Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase. 61 6 25
10856194 2000
12
Segregation analyses and a genome-wide linkage search confirm genetic heterogeneity and suggest oligogenic inheritance in some Milroy congenital primary lymphedema families. 25 57
11170072 2001
13
Mapping of primary congenital lymphedema to the 5q35.3 region. 57 61
9973292 1999
14
FLT4/VEGFR3 and Milroy disease: novel mutations, a review of published variants and database update. 25 61
23074044 2013
15
Classification of lymphatic-system malformations in primary lymphoedema based on MR lymphangiography. 57
22831870 2012
16
Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype. 6
21266381 2011
17
GJC2 missense mutations cause human lymphedema. 6
20537300 2010
18
Three children with Milroy disease and de novo mutations in VEGFR3. 25 61
17250670 2007
19
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. 25 61
12740761 2003
20
Prenatal diagnosis of Milroy's primary congenital lymphedema. 61 25
12224079 2002
21
Autosomal recessive lymphedema? 57
3735758 1986
22
Congenital lymphedema in two siblings. 57
4010046 1985
23
Congenital hereditary lymphedema in the pig. 57
642582 1978
24
The pathogenesis of congenital hereditary lymphedema in the pig. 57
642583 1978
25
CONGENITAL HEREDITARY LYMPHOEDEMA. 57
14295660 1965
26
PLEURAL EFFUSION IN CHRONIC HEREDITARY LYMPHEDEMA (NONNE, MILROY, MEIGE'S DISEASE). REPORT OF TWO CASES. 57
14115303 1964
27
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations. 25
24281367 2014
28
The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings. 25
23621851 2013
29
Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy. 25
22284827 2012
30
Yellow nail syndrome: analysis of 41 consecutive patients. 25
18403655 2008
31
Yellow nail syndrome: not a genetic disorder? Eleven new cases and a review of the literature. 25
17459037 2007
32
Hydrops fetalis: an unusual prenatal presentation of hereditary congenital lymphedema. 25
16231305 2005
33
Turner's syndrome. 25
15371580 2004
34
Turner syndrome in childhood and adolescence. 25
12464229 2002
35
A model for gene therapy of human hereditary lymphedema. 25
11592985 2001
36
Prenatal diagnosis of Nonne-Milroy lymphedema. 25
11547763 2001
37
VEGFR3 gene structure, regulatory region, and sequence polymorphisms. 25
11292664 2001
38
De novo novel splice-site mutation in FLT4/VEGFR3 is associated with Milroy disease. 61
32991753 2021
39
The physiological and pathological functions of VEGFR3 in cardiac and lymphatic development and related diseases. 61
33067626 2020
40
Investigation on the role of biallelic variants in VEGF-C found in a patient affected by Milroy-like lymphedema. 61
32592340 2020
41
Fatal Lung Toxicity After Intralesional Bleomycin Sclerotherapy of a Vascular Malformation. 61
32002622 2020
42
Surgical treatment of Milroy disease. 61
31165487 2020
43
Lymphoscintigraphic Abnormalities Associated with Milroy Disease and Lymphedema-Distichiasis Syndrome. 61
31721633 2019
44
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot. 61
30582441 2019
45
Immunohistochemical Evaluation of Histological Change in a Chinese Milroy Disease Family With Venous and Skin Abnormities. 61
30941160 2019
46
A Novel Splice-Site Mutation in VEGFC Is Associated with Congenital Primary Lymphoedema of Gordon. 61
30071673 2018
47
From fish embryos to human patients: lymphangiogenesis in development and disease. 61
29800868 2018
48
A novel mutation in the conserved sequence of vascular endothelial growth factor receptor 3 leads to primary lymphoedema. 61
29896974 2018
49
Modified enteromesenteric bridging operation for primary lymphedema. 61
30337509 2018
50
Bipolar Radiofrequency Ablation (Coblation) of External Auditory Canal Lymphatic Malformation and Other Soft Stenoses. 61
29078703 2017

Variations for Lymphatic Malformation 1

ClinVar genetic disease variations for Lymphatic Malformation 1:

6 (show all 21)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FLT4 NM_182925.5(FLT4):c.2569G>A (p.Gly857Arg) SNV Pathogenic 16259 rs267606818 5:180046743-180046743 5:180619743-180619743
2 FLT4 NM_182925.5(FLT4):c.3122G>C (p.Arg1041Pro) SNV Pathogenic 16260 rs121909650 5:180043464-180043464 5:180616464-180616464
3 FLT4 NM_182925.5(FLT4):c.3131T>C (p.Leu1044Pro) SNV Pathogenic 16261 rs121909651 5:180043455-180043455 5:180616455-180616455
4 FLT4 NM_182925.5(FLT4):c.3341C>T (p.Pro1114Leu) SNV Pathogenic 16262 rs121909652 5:180040101-180040101 5:180613101-180613101
5 FLT4 NM_182925.5(FLT4):c.3104A>G (p.His1035Arg) SNV Pathogenic 16263 rs121909653 5:180043482-180043482 5:180616482-180616482
6 FLT4 NM_182925.5(FLT4):c.2632G>A (p.Val878Met) SNV Pathogenic 16265 rs121909654 5:180046680-180046680 5:180619680-180619680
7 FLT4 NM_182925.5(FLT4):c.3257T>C (p.Ile1086Thr) SNV Pathogenic 16266 rs121909655 5:180041142-180041142 5:180614142-180614142
8 FLT4 NM_182925.5(FLT4):c.3316G>A (p.Glu1106Lys) SNV Pathogenic 16267 rs121909656 5:180041083-180041083 5:180614083-180614083
9 FLT4 NM_182925.5(FLT4):c.3320_3322TCT[1] (p.Phe1108del) Microsatellite Pathogenic 16268 rs587776833 5:180041074-180041076 5:180614074-180614076
10 FLT4 NM_182925.5(FLT4):c.2563G>A (p.Ala855Thr) SNV Pathogenic 16269 rs121909657 5:180046749-180046749 5:180619749-180619749
11 GJC2 NM_020435.4(GJC2):c.143C>T (p.Ser48Leu) SNV Pathogenic 2079 rs267606847 1:228345602-228345602 1:228157901-228157901
12 GJC2 NM_020435.4(GJC2):c.778C>T (p.Arg260Cys) SNV Pathogenic 2080 rs267606846 1:228346237-228346237 1:228158536-228158536
13 VEGFC NM_005429.5(VEGFC):c.628C>T (p.Arg210Ter) SNV Pathogenic 140737 rs587777567 4:177632729-177632729 4:176711575-176711575
14 VEGFC NM_005429.5(VEGFC):c.571_572insTT (p.Pro191fs) Insertion Pathogenic 140736 rs587777566 4:177632785-177632786 4:176711631-176711632
15 FLT4 NM_182925.5(FLT4):c.3410C>T (p.Pro1137Leu) SNV Likely pathogenic 932061 5:180040032-180040032 5:180613032-180613032
16 FLT4 NM_182925.5(FLT4):c.3121C>T (p.Arg1041Trp) SNV Likely pathogenic 692043 rs1451816005 5:180043465-180043465 5:180616465-180616465
17 FLT4 NM_182925.5(FLT4):c.3247C>T (p.Pro1083Ser) SNV Uncertain significance 930398 5:180041152-180041152 5:180614152-180614152
18 FLT4 NM_182925.5(FLT4):c.3610A>G (p.Thr1204Ala) SNV Uncertain significance 930555 5:180038407-180038407 5:180611407-180611407
19 GJC2 NM_020435.4(GJC2):c.1234C>T (p.His412Tyr) SNV Uncertain significance 445910 rs200334298 1:228346693-228346693 1:228158992-228158992
20 VEGFC NM_005429.5(VEGFC):c.364A>G (p.Ile122Val) SNV Benign 993883 4:177649120-177649120 4:176727966-176727966
21 VEGFC NM_005429.5(VEGFC):c.182G>A (p.Arg61Gln) SNV Benign 994064 4:177650866-177650866 4:176729712-176729712

UniProtKB/Swiss-Prot genetic disease variations for Lymphatic Malformation 1:

73 (show all 11)
# Symbol AA change Variation ID SNP ID
1 FLT4 p.Gly857Arg VAR_018409 rs267606818
2 FLT4 p.His1035Arg VAR_018412 rs121909653
3 FLT4 p.Arg1041Pro VAR_018413 rs121909650
4 FLT4 p.Leu1044Pro VAR_018414 rs121909651
5 FLT4 p.Pro1114Leu VAR_018415 rs121909652
6 FLT4 p.Ala855Thr VAR_074044 rs121909657
7 FLT4 p.Val878Met VAR_074045 rs121909654
8 FLT4 p.Gln1020Leu VAR_074046
9 FLT4 p.Ile1086Thr VAR_074048 rs121909655
10 FLT4 p.Glu1106Lys VAR_074049 rs121909656
11 FLT4 p.Ser1235Cys VAR_074051

Expression for Lymphatic Malformation 1

Search GEO for disease gene expression data for Lymphatic Malformation 1.

Pathways for Lymphatic Malformation 1

Pathways related to Lymphatic Malformation 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.81 VEGFC FLT4
2
Show member pathways
11.78 VEGFC FLT4
3 11.75 VEGFC FLT4
4
Show member pathways
11.67 VEGFC FLT4
5 11.49 VEGFC FLT4
6
Show member pathways
11.22 VEGFC FLT4
7 11.11 VEGFC FLT4
8 10.32 VEGFC FLT4
9
Show member pathways
9.83 VEGFC FLT4

GO Terms for Lymphatic Malformation 1

Biological processes related to Lymphatic Malformation 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.37 VEGFC FLT4
2 positive regulation of protein phosphorylation GO:0001934 9.32 VEGFC FLT4
3 positive regulation of endothelial cell proliferation GO:0001938 9.26 VEGFC FLT4
4 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.16 VEGFC FLT4
5 sprouting angiogenesis GO:0002040 8.96 VEGFC FLT4
6 vascular endothelial growth factor signaling pathway GO:0038084 8.62 VEGFC FLT4

Sources for Lymphatic Malformation 1

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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