MCID: HST017
MIFTS: 46

Histiocytosis-Lymphadenopathy Plus Syndrome

Categories: Genetic diseases, Rare diseases, Immune diseases, Ear diseases, Liver diseases

Aliases & Classifications for Histiocytosis-Lymphadenopathy Plus Syndrome

MalaCards integrated aliases for Histiocytosis-Lymphadenopathy Plus Syndrome:

Name: Histiocytosis-Lymphadenopathy Plus Syndrome 54 50 24 25 71 29 13
Histiocytosis with Joint Contractures and Sensorineural Deafness 50 24 71 69
Faisalabad Histiocytosis 50 24 71
H Syndrome 50 24 71
Pigmented Hypertrichosis with Insulin-Dependent Diabetes Mellitus 24 71
Sinus Histiocytosis and Massive Lymphadenopathy 24 71
Familial Rosai-Dorfman Disease 24 71
Slc29a3 Spectrum Disorder 50 25
Hjcd 50 71
Hyperpigmentation, Cutaneous, with Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, and Hypogonadism with or Without Hearing Loss 24
Histiocytosis and Lymphadenopathy with or Without Cutaneous, Cardiac, and/or Endocrine Features, Joint Contractures, and/or Deafness 24
Cutaneous Hyperpigmentation with Hypertrichosis Hepatosplenomegaly Heart Anomalies and Hypogonadism with or Without Hearing Loss 71
Histiocytosis and Lymphadenopathy with or Without Cutaneous Cardiac and/or Endocrine Features Joint Contractures and/or Deafness 71
Histiocytosis, Sinus 42
Slc29a3 Disorder 25
Hartnup Disease 69
H Disease 52
Shml 71
Phid 71
Hlas 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
very variable phenotype, with some patients having many features and others only a few


HPO:

32
histiocytosis-lymphadenopathy plus syndrome:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Histiocytosis-Lymphadenopathy Plus Syndrome

NIH Rare Diseases : 50 histiocytosis-lymphadenopathy plus syndrome is a group of conditions with overlapping signs and symptoms that affect many parts of the body. this group of disorders includes h syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus (phid), faisalabad histiocytosis, and familial rosai-dorfman disease (also known as familial sinus histiocytosis with massive lymphadenopathy or fshml). these conditions were once thought to be distinct disorders; however, because of the overlapping features and shared genetic cause, they are now considered to be part of the same disease spectrum. while some affected individuals have signs and symptoms characteristic of one of these conditions, others have a range of features from two or more of the conditions. the pattern of signs and symptoms can vary, even within the same family. all of the conditions in the spectrum are characterized by histiocytosis, which is an overgrowth of immune systemcells called histiocytes. these cells abnormally accumulate in one or more tissues in the body, which can lead to organ or tissue damage. the lymph nodes are commonly affected, leading to swelling of the lymph nodes (lymphadenopathy). other areas of cell accumulation can include skin, kidneys, brain and spinal cord (central nervous system), or digestive tract. the spectrum is known as histiocytosis-lymphadenoapthy plus syndrome because the disorders that make up the spectrum can have additional signs and symptoms. h syndrome is named for the collection of symptoms - all starting with the letter h - that are commonly present. these include hyperpigmented skin lesions with excessive hair growth (hypertrichosis) and histiocyte accumulation, enlargement of the liver or liver and spleen (hepatomegaly or hepatosplenomegaly), heart abnormalities, hearing loss, reduced amounts of hormones that direct sexual development (hypogonadism), and short stature (reduced height). in some cases, hyperglycemia/diabetes mellitus may also be present. phid is characterized by patches of hyperpigmented skin with hypertrichosis and the development of type 1 diabetes during childhood. faisalabad histiocytosis is characterized by lymphadenopathy and swelling of the eyelids due to the accumulation of histiocytes. affected individuals may also have joint deformities (contractures) in their fingers or toes, and hearing loss. familial rosai-dorfman disease is characterized by lymphadenopathy, most often in the neck. histiocytes can also accumulate in other parts of the body. histiocytosis-lymphadenopathy plus syndrome is caused by mutations in the slc29a3 gene. the condition is inherited in an autosomal recessive pattern. treatment is aimed at treating the symptoms present in each individual.    last updated: 3/28/2016

MalaCards based summary : Histiocytosis-Lymphadenopathy Plus Syndrome, also known as histiocytosis with joint contractures and sensorineural deafness, is related to hemoglobin h disease, nondeletional and acute leukemia, and has symptoms including short stature, hypertrichosis and hypertriglyceridemia. An important gene associated with Histiocytosis-Lymphadenopathy Plus Syndrome is SLC29A3 (Solute Carrier Family 29 Member 3), and among its related pathways/superpathways are Binding and Uptake of Ligands by Scavenger Receptors and Malaria. Affiliated tissues include heart, lymph node and liver, and related phenotype is Decreased shRNA abundance (Z-score < -2).

UniProtKB/Swiss-Prot : 71 Histiocytosis-lymphadenopathy plus syndrome: A syndrome characterized by the combination of features from 2 or more of four histiocytic disorders, originally thought to be distinct: Faisalabad histiocytosis (FHC), sinus histiocytosis with massive lymphadenopathy (SHML), H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome (PHID). FHC features include joint deformities, sensorineural hearing loss, and subsequent development of generalized lymphadenopathy and swellings in the eyelids that contain histiocytes. SHML causes lymph node enlargement in children frequently accompanied by fever, leukocytosis, elevated erythrocyte sedimentation rate, and polyclonal hypergammaglobulinemia. H syndrome is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism; hearing loss is found in about half of patients. PHID is characterized by predominantly antibody-negative insulin-dependent diabetes mellitus associated with pigmented hypertrichosis and variable occurrence of other features of H syndrome.

Genetics Home Reference : 25 Histiocytosis-lymphadenopathy plus syndrome (also known as SLC29A3 spectrum disorder) is a group of conditions with overlapping signs and symptoms that affect many parts of the body. This group of disorders includes H syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID), Faisalabad histiocytosis, and familial Rosai-Dorfman disease (also known as sinus histiocytosis with massive lymphadenopathy or SHML). These conditions were once thought to be distinct disorders; however, because of the overlapping features and shared genetic cause, they are now considered to be part of the same disease spectrum. While some affected individuals have signs and symptoms characteristic of one of the conditions, others have a range of features from two or more of the conditions. The pattern of signs and symptoms can vary even within the same family.

OMIM : 54
The histiocytosis-lymphadenopathy plus syndrome comprises features of 4 histiocytic disorders previously thought to be distinct: Faisalabad histiocytosis (FHC), sinus histiocytosis with massive lymphadenopathy (SHML), H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome (PHID). FHC described an autosomal recessive disease involving joint deformities, sensorineural hearing loss, and subsequent development of generalized lymphadenopathy and swellings in the eyelids that contain histiocytes (summary by Morgan et al., 2010). SHML, or familial Rosai-Dorfman disease, was described as a rare cause of lymph node enlargement in children, consisting of chronic massive enlargement of cervical lymph nodes frequently accompanied by fever, leukocytosis, elevated erythrocyte sedimentation rate, and polyclonal hypergammaglobulinemia. Extranodal sites were involved in approximately 25% of patients, including salivary glands, orbit, eyelid, spleen, and testes. The involvement of retropharyngeal lymphoid tissue sometimes caused snoring and sleep apnea (summary by Kismet et al., 2005). H syndrome was characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism; hearing loss was also found in about half of patients, and many had short stature. PHID was characterized by predominantly antibody-negative insulin-dependent diabetes mellitus associated with pigmented hypertrichosis and variable occurrence of other features of H syndrome, with hepatosplenomegaly occurring in about half of patients (Cliffe et al., 2009). Bolze et al. (2012) noted that mutations in the SLC29A3 gene (612373) had been implicated in H syndrome, PHID, FHC, and SHML, and that some patients presented a combination of features from 2 or more of these syndromes, leading to the suggestion that these phenotypes should be grouped together as 'SLC29A3 disorder.' Bolze et al. (2012) suggested that the histologic features of the lesions seemed to be the most uniform phenotype in these patients. In addition, the immunophenotype of infiltrating cells in H syndrome patients was shown to be the same as that seen in patients with the familial form of Rosai-Dorfman disease, further supporting the relationship between these disorders (Avitan-Hersh et al., 2011; Colmenero et al., 2012). (602782)

Related Diseases for Histiocytosis-Lymphadenopathy Plus Syndrome

Diseases related to Histiocytosis-Lymphadenopathy Plus Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 118)
id Related Disease Score Top Affiliating Genes
1 hemoglobin h disease, nondeletional 32.3 G6PD HBA2 HBB
2 acute leukemia 29.2 HBA2 HBB
3 hepatitis 29.2 G6PD HBA2 HBB
4 mhc class ii deficiency 11.8
5 anti-hla hyperimmunization 11.8
6 hla-a-related altered drug metabolism 11.7
7 hla-b-related altered drug metabolism 11.7
8 immunodeficiency by defective expression of hla class 1 11.7
9 asthma susceptibility, hla-g-related 11.7
10 bare lymphocyte syndrome, type i 11.7
11 bare lymphocyte syndrome, type ii, complementation group c 11.1
12 celiac disease 11.1
13 pemphigus vulgaris 11.1
14 dysosteosclerosis 11.1
15 graft-versus-host disease, protection against 11.0
16 alpha-thalassemia myelodysplasia syndrome, somatic 11.0
17 hyperornithinemia-hyperammonemia-homocitrullinemia syndrome 10.8
18 narcolepsy 1 10.7
19 thrombocytopenia, neonatal alloimmune 10.7
20 goodpasture syndrome 10.7
21 adult-onset immunodeficiency with anti-interferon-gamma autoantibodies 10.7
22 epilepsy occipital calcifications 10.7
23 hypersensitivity syndrome, carbamazepine-induced 10.7
24 systemic onset juvenile idiopathic arthritis 10.7
25 diabetes mellitus, ketosis-prone 10.7
26 rheumatoid arthritis 10.7
27 arthritis 10.3
28 leukemia 10.3
29 melanoma 10.2
30 haemophilus influenzae 10.2
31 influenza 10.2
32 histiocytosis 10.2
33 hiv-1 10.2
34 hematopoietic stem cell transplantation 10.1
35 psoriasis 10.1
36 lymphoma 10.1
37 hepatitis c 10.1
38 rosai-dorfman disease 10.0
39 spondylitis 10.0
40 cervicitis 10.0
41 lupus erythematosus 10.0
42 thyroiditis 10.0
43 systemic lupus erythematosus 10.0
44 tuberculosis 10.0
45 hepatitis b 10.0
46 hepatitis c virus 10.0
47 asthma 10.0
48 pemphigus 10.0
49 aplastic anemia 9.9
50 thalassemia 9.9

Graphical network of the top 20 diseases related to Histiocytosis-Lymphadenopathy Plus Syndrome:



Diseases related to Histiocytosis-Lymphadenopathy Plus Syndrome

Symptoms & Phenotypes for Histiocytosis-Lymphadenopathy Plus Syndrome

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Abdomen- Spleen:
splenomegaly

Skeletal- Limbs:
contractures of elbows

Metabolic Features:
fever

Cardiovascular- Heart:
atrial septal defect (rare)
ventricular septal defect (rare)
septal thickening (rare)
mitral valve prolapse (rare)
cardiomegaly (rare)
more
Head And Neck- Eyes:
exophthalmos
episcleritis
histiocytic deposits in eyelids
eyelid infiltrates
orbital mass due to histiocytosis

Head And Neck- Face:
submandibular lymphadenopathy

Head And Neck- Mouth:
retropharyngeal lymphadenopathy

Abdomen- External Features:
inguinal lymphadenopathy, bilateral, extending across suprapubic area

Muscle Soft Tissue:
retroperitoneal fibrosis (rare)

Immunology:
hyperglobulinemia, polyclonal (in some patients)
lymphadenopathy, generalized (in some patients)

Abdomen- Liver:
hepatomegaly

Head And Neck- Ears:
hearing loss, sensorineural

Skeletal- Hands:
camptodactyly
clinodactyly
contractures of fingers

Skeletal- Feet:
hallux valgus
contractures of toes

Endocrine Features:
growth hormone deficiency
hypergonadotropic hypogonadism
diabetes mellitus, insulin-dependent
hypogonadotropic hypogonadism (rare)

Abdomen- Pancreas:
diabetes mellitus, insulin-dependent
pancreatic exocrine deficiency
pancreatomegaly (rare)
pancreatic hypoplasia, mild (rare)

Head And Neck- Nose:
nasal mass due to histiocytosis

Head And Neck- Neck:
cervical lymphadenopathy

Skeletal:
intrauterine fractures of long bones and clavicles

Hematology:
nonclonal myeloproliferation

Laboratory- Abnormalities:
elevated inflammatory markers


Clinical features from OMIM:

602782

Human phenotypes related to Histiocytosis-Lymphadenopathy Plus Syndrome:

32 (show top 50) (show all 63)
id Description HPO Frequency HPO Source Accession
1 short stature 32 frequent (33%) HP:0004322
2 hypertrichosis 32 frequent (33%) HP:0000998
3 hypertriglyceridemia 32 occasional (7.5%) HP:0002155
4 hyperreflexia 32 occasional (7.5%) HP:0001347
5 hepatomegaly 32 HP:0002240
6 splenomegaly 32 HP:0001744
7 hydrocephalus 32 occasional (7.5%) HP:0000238
8 micropenis 32 occasional (7.5%) HP:0000054
9 cardiomegaly 32 occasional (7.5%) HP:0001640
10 hernia 32 occasional (7.5%) HP:0100790
11 proptosis 32 occasional (7.5%) HP:0000520
12 alopecia 32 occasional (7.5%) HP:0001596
13 atrial septal defect 32 occasional (7.5%) HP:0001631
14 camptodactyly 32 frequent (33%) HP:0012385
15 azoospermia 32 occasional (7.5%) HP:0000027
16 amenorrhea 32 occasional (7.5%) HP:0000141
17 ventricular septal defect 32 occasional (7.5%) HP:0001629
18 clinodactyly 32 HP:0030084
19 intellectual disability, mild 32 occasional (7.5%) HP:0001256
20 delayed puberty 32 hallmark (90%) HP:0000823
21 full cheeks 32 occasional (7.5%) HP:0000293
22 recurrent fractures 32 occasional (7.5%) HP:0002757
23 elbow flexion contracture 32 HP:0002987
24 ichthyosis 32 occasional (7.5%) HP:0008064
25 hypogonadism 32 occasional (7.5%) HP:0000135
26 fever 32 HP:0001945
27 malabsorption 32 occasional (7.5%) HP:0002024
28 hallux valgus 32 occasional (7.5%) HP:0001822
29 diabetes mellitus 32 occasional (7.5%) HP:0000819
30 pes planus 32 occasional (7.5%) HP:0001763
31 lymphadenopathy 32 frequent (33%) HP:0002716
32 growth hormone deficiency 32 HP:0000824
33 mitral valve prolapse 32 occasional (7.5%) HP:0001634
34 lipodystrophy 32 occasional (7.5%) HP:0009125
35 corneal arcus 32 occasional (7.5%) HP:0001084
36 bronchiectasis 32 occasional (7.5%) HP:0002110
37 hypergonadotropic hypogonadism 32 HP:0000815
38 gynecomastia 32 occasional (7.5%) HP:0000771
39 delayed skeletal maturation 32 occasional (7.5%) HP:0002750
40 sensorineural hearing impairment 32 HP:0000407
41 varicose veins 32 occasional (7.5%) HP:0002619
42 chronic rhinitis 32 occasional (7.5%) HP:0002257
43 hepatosplenomegaly 32 frequent (33%) HP:0001433
44 microcytic anemia 32 occasional (7.5%) HP:0001935
45 osteolysis 32 occasional (7.5%) HP:0002797
46 hearing impairment 32 frequent (33%) HP:0000365
47 episcleritis 32 HP:0100534
48 decreased testicular size 32 hallmark (90%) HP:0008734
49 scleroderma 32 hallmark (90%) HP:0100324
50 episodic fever 32 occasional (7.5%) HP:0001954

UMLS symptoms related to Histiocytosis-Lymphadenopathy Plus Syndrome:


seizures, fever

GenomeRNAi Phenotypes related to Histiocytosis-Lymphadenopathy Plus Syndrome according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.1 HBA2 SLC29A3
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.1 SLC29A3
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.1 SLC29A3
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.1 HBA2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.1 HBA2

Drugs & Therapeutics for Histiocytosis-Lymphadenopathy Plus Syndrome

Search Clinical Trials , NIH Clinical Center for Histiocytosis-Lymphadenopathy Plus Syndrome

Cochrane evidence based reviews: histiocytosis, sinus

Genetic Tests for Histiocytosis-Lymphadenopathy Plus Syndrome

Genetic tests related to Histiocytosis-Lymphadenopathy Plus Syndrome:

id Genetic test Affiliating Genes
1 Histiocytosis-Lymphadenopathy Plus Syndrome 29 24 SLC29A3

Anatomical Context for Histiocytosis-Lymphadenopathy Plus Syndrome

MalaCards organs/tissues related to Histiocytosis-Lymphadenopathy Plus Syndrome:

39
Heart, Lymph Node, Liver, Spleen, Skin, Kidney, Salivary Gland

Publications for Histiocytosis-Lymphadenopathy Plus Syndrome

Variations for Histiocytosis-Lymphadenopathy Plus Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Histiocytosis-Lymphadenopathy Plus Syndrome:

71
id Symbol AA change Variation ID SNP ID
1 SLC29A3 p.Gly427Ser VAR_057884 rs121912583
2 SLC29A3 p.Gly437Arg VAR_057885 rs121912584
3 SLC29A3 p.Met116Arg VAR_067801 rs267607057
4 SLC29A3 p.Arg134Cys VAR_067802
5 SLC29A3 p.Ser184Arg VAR_067804
6 SLC29A3 p.Arg363Gln VAR_067806 rs387907066
7 SLC29A3 p.Arg363Trp VAR_067807 rs387907067
8 SLC29A3 p.Thr449Arg VAR_067809 rs267607058

ClinVar genetic disease variations for Histiocytosis-Lymphadenopathy Plus Syndrome:

6 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1 SLC29A3 NM_018344.5(SLC29A3): c.1279G> A (p.Gly427Ser) single nucleotide variant Pathogenic rs121912583 GRCh37 Chromosome 10, 73122216: 73122216
2 SLC29A3 NM_018344.5(SLC29A3): c.1330G> T (p.Glu444Ter) single nucleotide variant Pathogenic rs267607056 GRCh37 Chromosome 10, 73122267: 73122267
3 SLC29A3 NM_018344.5(SLC29A3): c.1309G> A (p.Gly437Arg) single nucleotide variant Pathogenic rs121912584 GRCh37 Chromosome 10, 73122246: 73122246
4 SLC29A3 NM_018344.5(SLC29A3): c.1045delC (p.Leu349Serfs) deletion Pathogenic rs869025176 GRCh37 Chromosome 10, 73121982: 73121982
5 SLC29A3 NM_018344.5(SLC29A3): c.940delT (p.Tyr314Thrfs) deletion Pathogenic rs869025177 GRCh37 Chromosome 10, 73121877: 73121877
6 SLC29A3 NM_018344.5(SLC29A3): c.347T> G (p.Met116Arg) single nucleotide variant Pathogenic rs267607057 GRCh37 Chromosome 10, 73104012: 73104012
7 SLC29A3 NM_018344.5(SLC29A3): c.1346C> G (p.Thr449Arg) single nucleotide variant Pathogenic rs267607058 GRCh37 Chromosome 10, 73122283: 73122283
8 SLC29A3 SLC29A3, IVS2, G-A, +1 single nucleotide variant Pathogenic
9 SLC29A3 NM_018344.5(SLC29A3): c.308_309delTT (p.Phe103Terfs) deletion Pathogenic rs796052139 GRCh38 Chromosome 10, 71344216: 71344217
10 SLC29A3 NM_018344.5(SLC29A3): c.1088G> A (p.Arg363Gln) single nucleotide variant Pathogenic rs387907066 GRCh37 Chromosome 10, 73122025: 73122025
11 SLC29A3 SLC29A3, 1-BP DEL, 243A deletion Pathogenic
12 SLC29A3 NM_018344.5(SLC29A3): c.1157G> A (p.Arg386Gln) single nucleotide variant Pathogenic rs397515429 GRCh37 Chromosome 10, 73122094: 73122094
13 SLC29A3 NM_018344.5(SLC29A3): c.607T> C (p.Ser203Pro) single nucleotide variant Pathogenic rs397514626 GRCh37 Chromosome 10, 73111542: 73111542
14 SLC29A3 NM_018344.5(SLC29A3): c.1228C> T (p.Gln410Ter) single nucleotide variant Pathogenic rs587780462 GRCh38 Chromosome 10, 71362408: 71362408
15 SLC29A3 NM_018344.5(SLC29A3): c.300+1G> A single nucleotide variant Pathogenic rs587780463 GRCh38 Chromosome 10, 71323055: 71323055

Expression for Histiocytosis-Lymphadenopathy Plus Syndrome

Search GEO for disease gene expression data for Histiocytosis-Lymphadenopathy Plus Syndrome.

Pathways for Histiocytosis-Lymphadenopathy Plus Syndrome

GO Terms for Histiocytosis-Lymphadenopathy Plus Syndrome

Cellular components related to Histiocytosis-Lymphadenopathy Plus Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 9.26 HBA2 HBB
2 endocytic vesicle lumen GO:0071682 9.16 HBA2 HBB
3 hemoglobin complex GO:0005833 8.96 HBA2 HBB
4 haptoglobin-hemoglobin complex GO:0031838 8.62 HBA2 HBB

Biological processes related to Histiocytosis-Lymphadenopathy Plus Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.43 HBA2 HBB
2 cellular oxidant detoxification GO:0098869 9.4 HBA2 HBB
3 protein heterooligomerization GO:0051291 9.37 HBA2 HBB
4 response to hydrogen peroxide GO:0042542 9.32 HBA2 HBB
5 positive regulation of cell death GO:0010942 9.26 HBA2 HBB
6 bicarbonate transport GO:0015701 9.16 HBA2 HBB
7 hydrogen peroxide catabolic process GO:0042744 8.96 HBA2 HBB
8 oxygen transport GO:0015671 8.62 HBA2 HBB

Molecular functions related to Histiocytosis-Lymphadenopathy Plus Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.37 HBA2 HBB
2 heme binding GO:0020037 9.32 HBA2 HBB
3 oxygen binding GO:0019825 9.26 HBA2 HBB
4 peroxidase activity GO:0004601 9.16 HBA2 HBB
5 oxygen transporter activity GO:0005344 8.96 HBA2 HBB
6 haptoglobin binding GO:0031720 8.62 HBA2 HBB

Sources for Histiocytosis-Lymphadenopathy Plus Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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