MCID: PLM006
MIFTS: 46

Pulmonary Alveolar Proteinosis malady

Categories: Respiratory diseases, Rare diseases, Blood diseases

Aliases & Classifications for Pulmonary Alveolar Proteinosis

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Aliases & Descriptions for Pulmonary Alveolar Proteinosis:

Name: Pulmonary Alveolar Proteinosis 11 13 25 48 37 66

Classifications:



External Ids:

Disease Ontology11 DOID:12120
ICD1028 J84.01
ICD9CM30 516.0
SNOMED-CT60 10501004
MeSH37 D011649
NCIt43 C85037

Summaries for Pulmonary Alveolar Proteinosis

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Disease Ontology:11 A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange.

MalaCards based summary: Pulmonary Alveolar Proteinosis is related to congenital pulmonary alveolar proteinosis and pulmonary alveolar proteinosis, acquired, and has symptoms including hemoptysis and hemoptysis. An important gene associated with Pulmonary Alveolar Proteinosis is SFTPC (Surfactant Protein C), and among its related pathways are Regulation of retinoblastoma protein and FOXA1 transcription factor network. Affiliated tissues include lung, myeloid and bone, and related mouse phenotype respiratory system.

Wikipedia:69 Pulmonary alveolar proteinosis (abbreviated PAP), is a rare lung disease in which abnormal accumulation... more...

Related Diseases for Pulmonary Alveolar Proteinosis

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Diseases in the Pulmonary Alveolar Proteinosis family:

Pulmonary Alveolar Proteinosis, Acquired Congenital Pulmonary Alveolar Proteinosis
Hereditary Pulmonary Alveolar Proteinosis Secondary Pulmonary Alveolar Proteinosis

Diseases related to Pulmonary Alveolar Proteinosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 102)
idRelated DiseaseScoreTop Affiliating Genes
1congenital pulmonary alveolar proteinosis12.5
2pulmonary alveolar proteinosis, acquired12.5
3hereditary pulmonary alveolar proteinosis12.4
4secondary pulmonary alveolar proteinosis12.4
5interstitial lung and liver disease11.8
6surfactant metabolism dysfunction, pulmonary, 111.5
7surfactant metabolism dysfunction, pulmonary, 511.5
8surfactant metabolism dysfunction, pulmonary, 411.5
9pulmonary surfactant metabolism dysfunction11.4
10surfactant metabolism dysfunction, pulmonary, 211.2
11surfactant metabolism dysfunction, pulmonary, 311.2
12abca3-related pulmonary surfactant metabolism dysfunction11.2
13csf2ra-related pulmonary surfactant metabolism dysfunction11.2
14sftpb-related pulmonary surfactant metabolism dysfunction11.2
15sftpc-related pulmonary surfactant metabolism dysfunction11.2
16lysinuric protein intolerance10.8
17myelodysplastic syndrome10.5
18leukemia10.5
19pneumonia10.4
20immunodeficiency 2110.4
21pulmonary fibrosis10.4
22mounier-kuhn syndrome10.3SFTPB, SFTPD
23osteoarthritis10.3SFTPB, SFTPC
24respiratory failure10.3
25lung cancer10.3
26tuberculosis10.3
27intestinal atresia10.2SFTPB, SFTPC
28common wart10.2SFTPB, SFTPC
29ror2-related robinow syndrome10.2SFTPA1, SFTPC
30lung disease10.1
31myeloid leukemia10.1
32coronary restenosis10.1SFTPB, SFTPC, SFTPD
33systemic lupus erythematosus10.1
34aspergillosis10.1
35pick disease10.1
36arthritis10.1
37niemann-pick disease10.1
38silicosis10.1
39desquamative interstitial pneumonia10.1
40cryptococcosis10.1
41pneumothorax10.1
42lung squamous cell carcinoma10.1
43mediastinitis10.1
44lupus erythematosus10.1
45psoriasis10.1
46amyloidosis10.1
47retroperitoneal cancer10.0CSF2, SFTPD
48middle lobe syndrome10.0SFTPA1, SFTPD
49anonychia with flexural pigmentation10.0SFTPA1, SFTPB, SFTPC
50band keratopathy10.0SFTPA1, SFTPB, SFTPC

Graphical network of the top 20 diseases related to Pulmonary Alveolar Proteinosis:



Diseases related to pulmonary alveolar proteinosis

Symptoms for Pulmonary Alveolar Proteinosis

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UMLS symptoms related to Pulmonary Alveolar Proteinosis:


hemoptysis

Drugs & Therapeutics for Pulmonary Alveolar Proteinosis

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Drugs for Pulmonary Alveolar Proteinosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1molgramostimPhase 2, Phase 3, Phase 112
2
rituximabPhase 2, Phase 11611174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab
3
Nicotine101654-11-5942, 89594
Synonyms:
(−
(+)-Nicotine
(+-)-3-(1-Methyl-2-pyrrolidinyl)pyridine
(+-)-Nicotine
(-)-3-(1-Methyl-2-pyrrolidyl)pyridine
(-)-3-(N-Methylpyrrolidino)pyridine
(-)-Nicotine
(-)-Nicotine solution
(2S) 3-(1-Methyl-pyrrolidin-2-yl)-pyridine
(R)-3-(1-Methyl-2-pyrrolidinyl)pyridine
(R,S)-Nicotine
(R,S)-nicotine
(RS)-nicotine
(S)-(-)-NICOTINE, 3-[(2S)-1-METHYL-2-PYRROLIDINYL] PYRIDINE
(S)-(-)-Nicotine
(S)-3-(1-methylpyrrolidin-2-yl)pyridine
(S)-3-(N-methylpyrrolidin-2-yl)pyridine
(S)-Nicotine
(┬▒)-nicotine
)-1-Methyl-2-(3-pyridyl)pyrrolidine
)-Nicotine
)-Nicotine solution
1-Methyl-2-(3-pyridal)-Pyrrolidine
1-Methyl-2-(3-pyridal)-pyrrolidene
1-Methyl-2-(3-pyridiyl)pyrrolidine
1-Methyl-2-(3-pyridyl)pyrrolidine
1uw6
2'-beta-H-Nicotine
3-(1-Methyl-2-pyrollidinyl)pyridine
3-(1-Methyl-2-pyrrolidinyl)-Pyridine
3-(1-Methyl-2-pyrrolidinyl)pyridine
3-(1-Methylpyrrolidin-2-yl)pyridine
3-(2-(N-methylpyrrolidinyl))pyridine
3-(N-Methylpyrollidino)pyridine
3-(N-Methylpyrrolidino)pyridine
3-N-Methylpyrrolidine
3-[(2S)-1-methylpyrrolidin-2-yl]pyridine
36733_FLUKA
36733_RIEDEL
434F7990-3240-4A43-ACEC-E6CC1E495FA0
46343_FLUKA
46343_RIEDEL
54-11-5
AC1L3I79
AC1Q3ZOC
AI3-03424
BB_NC-0777
BIDD:GT0599
BRD-K05395900-322-02-1
Black Leaf
Black Leaf 40
C00745
CCRIS 1637
CHEBI:17688
CHEMBL3
CID89594
CPD000059074
Campbell's Nico-Soap
Caswell No. 597
Commit
D-Nicotine
D03365
DL-tetrahydronicotyrine
Destruxol
Destruxol Orchid Spray
EINECS 200-193-3
ENT 3,424
EPA Pesticide Chemical Code 056702
Emo-Nik
Flux Maag
Fumeto bac
Fumetobac
HSDB 1107
Habitrol
Habitrol (TN)
L(-)-nicotine
L-3-(1-Methyl-2-pyrrolidyl)pyridine
 
L-Nicotine
LS-202
MLS001055457
MLS001335905
Mach-Nic
Methyl-2-pyrrolidinyl)pyridine
Micotine
MolPort-000-744-731
N3876_SIGMA
N5511_FLUKA
N5511_SIGMA
NCGC00090693-01
NCGC00090693-02
NCGC00090693-03
NCGC00090693-04
NCGC00090693-05
NCGC00090693-06
NCGC00090693-07
NCT
NICOTINE AND SALTS
NSC 5065
NSC97238
Niagara P.A. Dust
Nic-Sal
Nico-Dust
Nico-Fume
Nicocide
Nicoderm
Nicoderm Cq
Nicoderm Patch
Nicorette
Nicorette Plus
Nicotin
Nicotina
Nicotina [Italian]
Nicotine
Nicotine (USP)
Nicotine (compounds related to)
Nicotine Alkaloid
Nicotine Patch
Nicotine Polacrilex
Nicotine [BSI:ISO]
Nicotine [UN1654]
Nicotine [UN1654] [Poison]
Nicotine [USAN]
Nicotrol
Nicotrol Inhaler
Nicotrol Ns
Nictoine patch
Nikotin
Nikotin [German]
Nikotyna
Nikotyna [Polish]
Ortho N-4 Dust
Ortho N-5 Dust
PDSP1_000113
PDSP1_000465
PDSP2_000463
PDSP2_000555
Prostep
R)-(+)-Nicotine
RCRA waste no. P075
RCRA waste number P075
SAM002564224
SDCCGMLS-0066911.P001
SMR000059074
Tendust
Transdermal Nicotine
UN1654
a -N-Methylpyrrolidine
a-N-Methylpyrrolidine
alpha-N-Methylpyrrolidine
beta-Pyridyl-alpha-N-methyl pyrrolidine
beta-Pyridyl-alpha-N-methylpyrrolidine
bmse000105
delta-Nicotine
nicotine
nicotine replacement patch

Interventional clinical trials:

(show all 16)
idNameStatusNCT IDPhase
1Efficacy and Safety of Inhaled Molgramostim (rhGM-CSF) in Autoimmune Pulmonary Alveolar Proteinosis (aPAP)RecruitingNCT02702180Phase 2, Phase 3
2Whole Lung Lavage (WLL)/Inhaled Granulocyte-macrophage Colony-stimulating Factor (GM-CSF) in Autoimmune Pulmonary Alveolar Proteinosis (PAP)Enrolling by invitationNCT00901511Phase 2, Phase 3
3Inhaled Granulocyte-Macrophage Colony Stimulating Factor (GM-CSF) in Hereditary Pulmonary Alveolar Proteinosis (PAP)CompletedNCT01511068Phase 2
4Prospective Trial of Rituximab for Primary Pulmonary Alveolar ProteinosisRecruitingNCT00552461Phase 2
5Inhalation of Granulocyte-macrophage Colony-stimulating Factor (GM-CSF) for Autoimmune Pulmonary Alveolar Proteinosis (PAP)RecruitingNCT02243228Phase 2
6Pulmonary Alveolar Proteinosis GM-CSF Inhalation Efficacy Trial in JapanRecruitingNCT02835742Phase 2
7Study of Subcutaneous Injection of Low-dose rhGM-CSF +/- WLL in PAP.RecruitingNCT01983657Phase 2
8GM-CSF in Patients With Pulmonary Alveolar ProteinosisTerminatedNCT00030056Phase 2
9Inhaled Molgramostim (rhGM-CSF) in Healthy Adult SubjectsCompletedNCT02468908Phase 1
10Rituximab for Anti-cytokine Autoantibody-Associated DiseasesRecruitingNCT01842386Phase 1
11SK-1401 (rhGM-CSF Agent for Inhalation) GM-CSF Inhalation Pharmacokinetic StudyActive, not recruitingNCT02840708Phase 1
12A National Registry For Pulmonary Alveolar ProteinosisRecruitingNCT02461615
13Evaluation and Treatment Planning of Patients With PAP Using Thrive Ultra Short Echo Time MRI and CTRecruitingNCT02081092
14European Management Platform for Childhood Interstitial Lung Diseases - chILD-EU Register and BiobankRecruitingNCT02852928
15Natural History Study of GATA2 Deficiency and Related DisordersRecruitingNCT01905826
16Epidemiology of Surfactant Protein-B DeficiencyRecruitingNCT00014859

Search NIH Clinical Center for Pulmonary Alveolar Proteinosis


Cochrane evidence based reviews: pulmonary alveolar proteinosis

Genetic Tests for Pulmonary Alveolar Proteinosis

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Genetic tests related to Pulmonary Alveolar Proteinosis:

id Genetic test Affiliating Genes
1 Pulmonary Alveolar Proteinosis25

Anatomical Context for Pulmonary Alveolar Proteinosis

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MalaCards organs/tissues related to Pulmonary Alveolar Proteinosis:

34
Lung, Myeloid, Bone, Bone marrow, Monocytes, Testes, Breast

Animal Models for Pulmonary Alveolar Proteinosis or affiliated genes

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MGI Mouse Phenotypes related to Pulmonary Alveolar Proteinosis:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053887.0ABCG1, CSF2, CSF2RB, SFTPA1, SFTPB, SFTPC

Publications for Pulmonary Alveolar Proteinosis

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Articles related to Pulmonary Alveolar Proteinosis:

(show top 50)    (show all 595)
idTitleAuthorsYear
1
Pulmonary Fibrosis on High-Resolution CT of Patients With Pulmonary Alveolar Proteinosis. (27548000)
2016
2
Induced sputum deposition improves diagnostic yields of pulmonary alveolar proteinosis: A clinicopathological and methodological study of 17 cases. (26583435)
2016
3
Localized Airspace Consolidation of Pulmonary Alveolar Proteinosis Mimicking Malignant Lesions in 18F-FDG PET/CT Imaging: One Case Report. (26252337)
2015
4
Localized pulmonary alveolar proteinosis: two case reports. (25337424)
2014
5
A crazy cause of dyspnoea: pulmonary alveolar proteinosis. (25152273)
2014
6
Development of pulmonary alveolar proteinosis following exposure to dust after the Great East Japan Earthquake. (24238228)
2013
7
Standardized serum GM-CSF autoantibody testing for the routine clinical diagnosis of autoimmune pulmonary alveolar proteinosis. (24275678)
2013
8
The parallel lives of alpha1-antitrypsin deficiency and pulmonary alveolar proteinosis. (24079310)
2013
9
Whole lung lavage of nine children with pulmonary alveolar proteinosis: experience in a tertiary lung center. (23550265)
2013
10
A rare occurrence of pulmonary alveolar proteinosis after lung transplantation. (23821516)
2013
11
Pulmonary alveolar proteinosis: quantitative CT and pulmonary functional correlations. (21621361)
2012
12
Call for an international survey on therapeutic lavage for pulmonary alveolar proteinosis. (22467731)
2012
13
Pulmonary alveolar proteinosis in an indium-processing worker. (20529594)
2010
14
Pulmonary alveolar proteinosis in a 67-year-old woman with Wegener's granulomatosis. (20623200)
2010
15
Patient-derived granulocyte/macrophage colony-stimulating factor autoantibodies reproduce pulmonary alveolar proteinosis in nonhuman primates. (20224064)
2010
16
Whole-lung lavage in infants and children with pulmonary alveolar proteinosis. (21199121)
2010
17
Therapeutic bilateral lung lavage in a child with pulmonary alveolar proteinosis. (20453607)
2010
18
F-18 FDG PET/CT in pulmonary alveolar proteinosis. (19352264)
2009
19
Up-regulation of surfactant protein production in a mouse model of secondary pulmonary alveolar proteinosis. (18931325)
2009
20
Lysosomal iron in pulmonary alveolar proteinosis: a case report. (19251804)
2009
21
Clinical importance of bronchoalveolar lavage fluid and blood cytokines, surfactant protein D, and Kerbs von Lungren 6 antigen in idiopathic pulmonary alveolar proteinosis. (19046553)
2008
22
A combination therapy of whole lung lavage and GM-CSF inhalation in pulmonary alveolar proteinosis. (18618617)
2008
23
GM-CSF autoantibodies in pulmonary alveolar proteinosis. (17506160)
2007
24
Pulmonary alveolar proteinosis--is host defense awry? (17287475)
2007
25
A case of uncomplicated pulmonary alveolar proteinosis evolving to pulmonary fibrosis. (18309702)
2007
26
Pulmonary alveolar proteinosis. (16916009)
2006
27
Pulmonary alveolar proteinosis with myeloproliferative syndrome with myelodysplasia: bronchoalveolar lavage reduces white blood cell count. (16906593)
2006
28
Pulmonary alveolar proteinosis. What is the role of GM-CSF in disease pathogenesis and treatment? (15350161)
2004
29
Use of extracorporeal membrane oxygenation (ECMO) during whole lung lavage in pulmonary alveolar proteinosis associated with lung cancer. (15519209)
2004
30
Usefulness of the modified lavage technique of Bingisser and KL-6 monitoring in a patient with pulmonary alveolar proteinosis. (12058888)
2002
31
Detection of granulocyte-macrophage colony-stimulating factor in patients with pulmonary alveolar proteinosis. (10764326)
2000
32
Idiopathic pulmonary alveolar proteinosis as an autoimmune disease with neutralizing antibody against granulocyte/macrophage colony-stimulating factor. (10499925)
1999
33
Pulmonary alveolar proteinosis in a child: HRCT findings before and after bronchoalveolar lavage. (9866787)
1998
34
Serum KL-6 level as a monitoring marker in a patient with pulmonary alveolar proteinosis. (10319067)
1998
35
Bronchoalveolar lavage cytology in pulmonary alveolar proteinosis. (8853040)
1996
36
Interstitial lattice shadow and mediastinal lymphadenopathy with an elevation of carcinoembryonic antigen in severe pulmonary alveolar proteinosis. (1611200)
1992
37
Pulmonary alveolar proteinosis (with review of literature). (3060464)
1988
38
Pulmonary alveolar proteinosis: determination of prostaglandins and leukotrienes in lavage fluid. (3031390)
1987
39
Pulmonary alveolar proteinosis: prospective clinical experience in 23 patients for 15 years. (6492867)
1984
40
Progressive intrapartum respiratory insufficiency due to pulmonary alveolar proteinosis. Amelioration by therapeutic whole-lung bronchopulmonary lavage. (6468015)
1984
41
The immunoinhibitory activities of the lung lavage materials and sera from patients with pulmonary alveolar proteinosis (PAP). (6894313)
1981
42
Pulmonary alveolar proteinosis complicating chronic myelogenous leukemia. (6932998)
1980
43
Pulmonary alveolar proteinosis associated with fanconi's anemia. (515542)
1979
44
Pulmonary alveolar proteinosis: abnormal in vitro function of alveolar macrophages. (456053)
1979
45
Particulate concentrations in pulmonary alveolar proteinosis. (318522)
1978
46
Pulmonary alveolar proteinosis--physiologic observations during and after pulmonary lavage. (4531921)
1973
47
Pulmonary alveolar proteinosis. Home treatment with intermittent positive pressure breathing. (4573995)
1973
48
Pulmonary alveolar proteinosis. (5058156)
1972
49
Focal pulmonary alveolar proteinosis in pulmonary tuberculosis. (5766260)
1969
50
Pulmonary alveolar proteinosis. Treatment in a case complicated by tuberculosis. (6066626)
1967

Variations for Pulmonary Alveolar Proteinosis

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Expression for genes affiliated with Pulmonary Alveolar Proteinosis

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Search GEO for disease gene expression data for Pulmonary Alveolar Proteinosis.

Pathways for genes affiliated with Pulmonary Alveolar Proteinosis

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Pathways related to Pulmonary Alveolar Proteinosis according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.5CSF2, SFTPD
2
Show member pathways
9.1SFTPA1, SFTPD
3
Show member pathways
9.0CSF2, CSF2RA, CSF2RB
4
Show member pathways
9.0CSF2, CSF2RA, CSF2RB
5
Show member pathways
8.5SFTPA1, SFTPB, SFTPC, SFTPD
6
Show member pathways
7.4CSF2RA, CSF2RB, SFTPA1, SFTPB, SFTPC, SFTPD
7
Show member pathways
7.4CSF2RA, CSF2RB, SFTPA1, SFTPB, SFTPC, SFTPD
8
Show member pathways
7.4CSF2RA, CSF2RB, SFTPA1, SFTPB, SFTPC, SFTPD
9
Show member pathways
7.4CSF2RA, CSF2RB, SFTPA1, SFTPB, SFTPC, SFTPD
10
Show member pathways
7.4CSF2RA, CSF2RB, SFTPA1, SFTPB, SFTPC, SFTPD

GO Terms for genes affiliated with Pulmonary Alveolar Proteinosis

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Cellular components related to Pulmonary Alveolar Proteinosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1multivesicular body lumenGO:009748610.4SFTPB, SFTPC
2collagen trimerGO:00055819.7SFTPA1, SFTPD
3lamellar bodyGO:00425999.2SFTPA1, SFTPB, SFTPC, SFTPD
4clathrin-coated endocytic vesicleGO:00453348.9SFTPA1, SFTPB, SFTPC, SFTPD
5extracellular spaceGO:00056158.1CSF2, SFTPA1, SFTPB, SFTPC, SFTPD
6endoplasmic reticulum membraneGO:00057897.7ABCG1, SFTPA1, SFTPB, SFTPC, SFTPD
7extracellular regionGO:00055767.6CSF2, CSF2RA, SFTPA1, SFTPB, SFTPC, SFTPD

Biological processes related to Pulmonary Alveolar Proteinosis according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1embryonic placenta developmentGO:000189210.1CSF2, GATA2
2response to lipidGO:003399310.1ABCG1, GATA2
3positive regulation of phagocytosisGO:00507669.6GATA2, SFTPD
4peptidyl-tyrosine phosphorylationGO:00181089.1CSF2, CSF2RA, CSF2RB
5MAPK cascadeGO:00001658.9CSF2, CSF2RA, CSF2RB
6respiratory gaseous exchangeGO:00075858.1CSF2RB, SFTPA1, SFTPB, SFTPC, SFTPD
7cellular protein metabolic processGO:00442677.5CSF2RA, CSF2RB, SFTPA1, SFTPB, SFTPC, SFTPD

Molecular functions related to Pulmonary Alveolar Proteinosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1Ras guanyl-nucleotide exchange factor activityGO:00050889.0CSF2, CSF2RA, CSF2RB
2protein tyrosine kinase activityGO:00047138.7CSF2, CSF2RA, CSF2RB

Sources for Pulmonary Alveolar Proteinosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet