MCID: PTT014
MIFTS: 51

Pitt-Hopkins Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Pitt-Hopkins Syndrome

About this section

Aliases & Descriptions for Pitt-Hopkins Syndrome:

Name: Pitt-Hopkins Syndrome 50 11 22 46 23 24 13 52 68 12 37 66
Pitt Hopkins Syndrome 46 23 25
Pths 24 68
Intellectual Disability, Wide Mouth, Distinctive Facial Features, and Intermittent Hyperventilation Followed by Apnea 46
Mental Retardation Syndromal with Intermittent Hyperventilation 68
 
Encephalopathy Severe Epileptic with Autonomic Dysfunction 68
Pallister-Hall Syndrome 66
Mesh; D006985 68
Mesh; D008607 68
Phs 24

Characteristics:

Orphanet epidemiological data:

52
pitt-hopkins syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

62
pitt-hopkins syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 610954
Disease Ontology11 DOID:0060488
MeSH37 C537403
Orphanet52 ORPHA2896
SNOMED-CT60 702344008
ICD10 via Orphanet29 Q87.0
MESH via Orphanet38 C537403
UMLS via Orphanet67 C1970431
MedGen35 C1970431

Summaries for Pitt-Hopkins Syndrome

About this section
NIH Rare Diseases:46 Pitt-hopkins syndrome is a genetic condition characterized by intellectual disability and developmental delay, recurrent seizures (epilepsy), distinctive facial features, and breathing problems (i.e., periodic hyperventilation followed by apnea). this condition is caused by mutations in the tcf4 transcription factor gene. pitt-hopkins syndrome is inherited in an autosomal dominant pattern. most cases, however, result from a new (de novo) mutation and occur on people with no history of the condition in their family. treatment involves addressing the individual problems seen in each patient, and may include early intervention services, special education, and routine management of medicals concerns like seizures and myopia. last updated: 1/4/2016

MalaCards based summary: Pitt-Hopkins Syndrome, also known as pitt hopkins syndrome, is related to pth-related familial isolated hypoparathyroidism and hypoparathyroidism, familial isolated, and has symptoms including wide mouth, abnormality of the teeth and abnormality of the palate. An important gene associated with Pitt-Hopkins Syndrome is TCF4 (Transcription Factor 4), and among its related pathways is CDO in myogenesis. Affiliated tissues include brain, eye and skin, and related mouse phenotypes are taste/olfaction and behavior/neurological.

Disease Ontology:11 A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures (epilepsy), and distinctive facial features. it is caused by heterozygous de novo mutations in the tcf4 gene in chromosome 18q21.

Genetics Home Reference:24 Pitt-Hopkins syndrome is a condition characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures (epilepsy), and distinctive facial features.

OMIM:50 The Pitt-Hopkins syndrome is characterized by mental retardation, wide mouth and distinctive facial features, and... (610954) more...

UniProtKB/Swiss-Prot:68 Pitt-Hopkins syndrome: A syndrome characterized by mental retardation, wide mouth and distinctive facial features, and intermittent hyperventilation followed by apnea. Features include intellectual disability with severe speech impairment, normal growth parameters at birth, postnatal microcephaly, breathing anomalies, severe motor developmental delay, motor incoordination, ocular anomalies, constipation, seizures, typical behavior and subtle brain abnormalities.

GeneReviews summary for NBK100240

Related Diseases for Pitt-Hopkins Syndrome

About this section

Diseases in the Pitt-Hopkins Syndrome family:

Pitt-Hopkins-Like Syndrome 2 Pitt-Hopkins-Like Syndrome

Diseases related to Pitt-Hopkins Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 71)
idRelated DiseaseScoreTop Affiliating Genes
1pth-related familial isolated hypoparathyroidism11.9
2hypoparathyroidism, familial isolated11.3
3pallister-hall syndrome11.2
4hyperoxaluria, primary, type iii11.2
5hyperphenylalaninemia, bh4-deficient, d11.1
6hyperparathyroidism10.9
7hypoparathyroidism10.8
8primary hyperparathyroidism10.8
9pseudohypoparathyroidism, type ib10.7
10pseudohypoparathyroidism10.7
11renal osteodystrophy10.7
12pulmonary hypertension10.6
13pitt-hopkins-like syndrome 210.5
14cortical dysplasia-focal epilepsy syndrome10.5
15lactic acidosis10.5
16leukemia10.4
17metabolic acidosis10.4
18influenza10.4
19hypercalcemia10.4
20h. pylori infection10.3
21alzheimer disease10.3
22neuroblastoma10.3
23syndromic intellectual disability10.3
24intellectual disability10.3
25colorectal cancer10.3
26osteoporosis10.3
27lung cancer10.2
28ischemic heart disease10.2
29pityriasis lichenoides10.2CNTNAP2, NRXN1
30gastroesophageal reflux10.2
31esophagitis10.2
32lymphoblastic leukemia10.1
33schizophrenia10.1
34charcot-marie-tooth disease, type 1a10.1
35charcot-marie-tooth disease10.1
36non-syndromic intellectual disability10.1
37tooth disease10.1
38neuronitis10.1
39ring chromosome 1810.1
40autonomic dysfunction10.1
41encephalopathy10.1
42myeloid leukemia10.1
43breast cancer10.1
44vaginitis10.1
45adenoma10.1
46mirror movements 110.0FECD3, TCF4
47parathyroid carcinoma10.0
48prostatitis10.0
49hypocalcemia, autosomal dominant10.0
50pseudohypoparathyroidism ia10.0

Graphical network of the top 20 diseases related to Pitt-Hopkins Syndrome:



Diseases related to pitt-hopkins syndrome

Symptoms for Pitt-Hopkins Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

610954

Clinical features from OMIM:

610954

HPO human phenotypes related to Pitt-Hopkins Syndrome:

(show all 58)
id Description Frequency HPO Source Accession
1 wide mouth hallmark (90%) HP:0000154
2 abnormality of the teeth hallmark (90%) HP:0000164
3 abnormality of the palate hallmark (90%) HP:0000174
4 thick lower lip vermilion hallmark (90%) HP:0000179
5 microcephaly hallmark (90%) HP:0000252
6 thickened helices hallmark (90%) HP:0000391
7 anteverted nares hallmark (90%) HP:0000463
8 deeply set eye hallmark (90%) HP:0000490
9 muscular hypotonia hallmark (90%) HP:0001252
10 constipation hallmark (90%) HP:0002019
11 neurological speech impairment hallmark (90%) HP:0002167
12 incoordination hallmark (90%) HP:0002311
13 cognitive impairment hallmark (90%) HP:0100543
14 cryptorchidism typical (50%) HP:0000028
15 myopia typical (50%) HP:0000545
16 tapered finger typical (50%) HP:0001182
17 seizures typical (50%) HP:0001250
18 apnea typical (50%) HP:0002104
19 hypopigmented skin patches occasional (7.5%) HP:0001053
20 hypoplasia of penis occasional (7.5%) HP:0008736
21 cryptorchidism HP:0000028
22 micropenis HP:0000054
23 open mouth HP:0000194
24 microcephaly HP:0000252
25 coarse facial features HP:0000280
26 full cheeks HP:0000293
27 short philtrum HP:0000322
28 narrow forehead HP:0000341
29 cupped ear HP:0000378
30 wide nasal bridge HP:0000431
31 short neck HP:0000470
32 astigmatism HP:0000483
33 strabismus HP:0000486
34 deeply set eye HP:0000490
35 myopia HP:0000545
36 upslanted palpebral fissure HP:0000582
37 widely spaced teeth HP:0000687
38 aggressive behavior HP:0000718
39 single transverse palmar crease HP:0000954
40 tapered finger HP:0001182
41 clubbing HP:0001217
42 seizures HP:0001250
43 muscular hypotonia HP:0001252
44 motor delay HP:0001270
45 encephalopathy HP:0001298
46 absent speech HP:0001344
47 pes planus HP:0001763
48 narrow foot HP:0001786
49 constipation HP:0002019
50 gastroesophageal reflux HP:0002020
51 gait ataxia HP:0002066
52 hypoplasia of the corpus callosum HP:0002079
53 incoordination HP:0002311
54 dysautonomia HP:0002459
55 intermittent hyperventilation HP:0004879
56 intellectual disability, progressive HP:0006887
57 intellectual disability, severe HP:0010864
58 clinodactyly HP:0030084

UMLS symptoms related to Pitt-Hopkins Syndrome:


constipation, seizures, nasal flaring, abnormal coordination

Drugs & Therapeutics for Pitt-Hopkins Syndrome

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Pitt-Hopkins Syndrome


Cochrane evidence based reviews: pitt-hopkins syndrome

Genetic Tests for Pitt-Hopkins Syndrome

About this section

Genetic tests related to Pitt-Hopkins Syndrome:

id Genetic test Affiliating Genes
1 Pitt-Hopkins Syndrome25 23 TCF4

Anatomical Context for Pitt-Hopkins Syndrome

About this section

MalaCards organs/tissues related to Pitt-Hopkins Syndrome:

34
Brain, Eye, Skin, Testes

Animal Models for Pitt-Hopkins Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Pitt-Hopkins Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.3ASCL1, CDKL5, CNTNAP2
2MP:00053866.9ASCL1, CDKL5, CHD6, CNTNAP2, MEF2C, NRXN1
3MP:00036316.2ASCL1, CDKL5, CNTNAP2, LARP7, MEF2C, NRXN1

Publications for Pitt-Hopkins Syndrome

About this section

Articles related to Pitt-Hopkins Syndrome:

(show all 40)
idTitleAuthorsYear
1
Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system. (27072915)
2016
2
Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome. (27132474)
2016
3
Introducing Pitt-Hopkins syndrome-associated mutations of TCF4 to Drosophila daughterless. (26621827)
2015
4
Pitt-Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical Challenge. (27617128)
2015
5
Successful use of acetazolamide for central apnea in a child with Pitt-Hopkins syndrome. (25900839)
2015
6
Pitt-Hopkins syndrome: Mental retardation, psychomotor and developmental delays with facial dysmorphism. (27625870)
2014
7
Pitt-Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription. (23640545)
2013
8
263.4A kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype. (23528641)
2013
9
Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome. (22335494)
2013
10
A case of Pitt-Hopkins syndrome with absence of hyperventilation. (23248353)
2013
11
Previously unreported difficult intubation in a child with Pitt-Hopkins syndrome. (24383606)
2013
12
Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects. (22460224)
2012
13
Pitt-Hopkins Syndrome. (22670138)
2012
14
Development, cognition, and behaviour in Pitt-Hopkins syndrome. (22712893)
2012
15
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum. (22045651)
2012
16
Tissue-limited ring chromosome 18 mosaicism as a cause of Pitt-Hopkins syndrome. (22887345)
2012
17
Pitt-Hopkins syndrome in a boy with Charcot Marie Tooth disease type 1A: a rare co-occurrence of 2 genetic disorders. (22378661)
2012
18
Acetazolamide for severe apnea in Pitt-Hopkins syndrome. (22407847)
2012
19
Clinical and polygraphic improvement of breathing abnormalities after valproate in a case of Pitt-Hopkins syndrome. (22378662)
2012
20
Functional analysis of TCF4 missense mutations that cause Pitt- Hopkins syndrome. (22777675)
2012
21
Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome. (22678594)
2012
22
Pitt-Hopkins syndrome should be in the differential diagnosis for males presenting with an ATR-X phenotype. (22040220)
2011
23
Fetal pads as a clue to the diagnosis of Pitt-Hopkins syndrome. (21671383)
2011
24
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria. (21671391)
2011
25
Neurologic and ocular phenotype in Pitt-Hopkins syndrome and a zebrafish model. (21544580)
2011
26
TCF4, schizophrenia, and Pitt-Hopkins Syndrome. (20421335)
2010
27
Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation. (20205897)
2010
28
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. (19235238)
2009
29
Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations. (19938247)
2009
30
TCF4 deletions in Pitt-Hopkins Syndrome. (18781613)
2008
31
Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients. (18728071)
2008
32
Hyperventilation and the Pitt-Hopkins syndrome. (18611190)
2008
33
Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome. (18627065)
2008
34
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). (17436255)
2007
35
Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4. (17478476)
2007
36
Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. (17436254)
2007
37
Pitt-Hopkins syndrome in two patients and further definition of the phenotype. (16531728)
2006
38
Possible case of Pitt-Hopkins syndrome in sibs. (11568923)
2001
39
Mental retardation, &quot;coarse&quot; face, and hyperbreathing: confirmation of the Pitt-Hopkins syndrome. (9475596)
1998
40
Pitt-Hopkins Syndrome (22934316)
1993

Variations for Pitt-Hopkins Syndrome

About this section

UniProtKB/Swiss-Prot genetic disease variations for Pitt-Hopkins Syndrome:

68 (show all 13)
id Symbol AA change Variation ID SNP ID
1TCF4p.Arg576GlnVAR_034704rs121909121
2TCF4p.Arg576TrpVAR_034705rs121909120
3TCF4p.Asp535GlyVAR_058632
4TCF4p.Arg572GlyVAR_058633
5TCF4p.Ala610ValVAR_058634
6TCF4p.Gly358ValVAR_066839
7TCF4p.Arg574ProVAR_066840rs121909123
8TCF4p.Arg578HisVAR_066841
9TCF4p.Arg565TrpVAR_066970
10TCF4p.Arg572GlnVAR_066971
11TCF4p.Arg574HisVAR_066972rs121909123
12TCF4p.Arg578ProVAR_066973
13TCF4p.Ala583ProVAR_066974

Clinvar genetic disease variations for Pitt-Hopkins Syndrome:

5 (show all 33)
id Gene Variation Type Significance SNP ID Assembly Location
1TCF4NM_001083962.1(TCF4): c.1146+1G> Asingle nucleotide variantPathogenicrs587784458GRCh38Chr 18, 55257314: 55257314
2TCF4NM_001083962.1(TCF4): c.1498G> T (p.Gly500Ter)single nucleotide variantPathogenicrs587784459GRCh38Chr 18, 55232660: 55232660
3TCF4NM_001083962.1(TCF4): c.1741G> T (p.Val581Phe)single nucleotide variantLikely pathogenicrs587784460GRCh38Chr 18, 55228985: 55228985
4TCF4NM_001083962.1(TCF4): c.1840G> C (p.Ala614Pro)single nucleotide variantLikely pathogenicrs587784462GRCh38Chr 18, 55228886: 55228886
5TCF4NM_001083962.1(TCF4): c.415delC (p.Leu139Phefs)deletionPathogenicrs587784463GRCh38Chr 18, 55350958: 55350958
6TCF4NM_001083962.1(TCF4): c.469C> T (p.Arg157Ter)single nucleotide variantPathogenicrs587784464GRCh38Chr 18, 55350904: 55350904
7TCF4NM_001083962.1(TCF4): c.655+1G> Asingle nucleotide variantPathogenicrs587784465GRCh38Chr 18, 55279550: 55279550
8TCF4NM_001083962.1(TCF4): c.656-1G> Csingle nucleotide variantPathogenicrs587784466GRCh38Chr 18, 55275753: 55275753
9TCF4NM_001083962.1(TCF4): c.791delG (p.Ser264Thrfs)deletionPathogenicrs587784468GRCh37Chr 18, 52937193: 52937193
10TCF4NM_001083962.1(TCF4): c.990G> A (p.Ser330=)single nucleotide variantLikely pathogenicrs587784469GRCh37Chr 18, 52928697: 52928697
11TCF4NM_001083962.1(TCF4): c.991-2A> Gsingle nucleotide variantPathogenicrs587784470GRCh37Chr 18, 52927260: 52927260
12TCF4NM_001083962.1(TCF4): c.1414delG (p.Val472Phefs)deletionPathogenicrs727504174GRCh37Chr 18, 52901851: 52901851
13TCF4NM_001083962.1(TCF4): c.1357dupA (p.Thr453Asnfs)duplicationPathogenicrs786200992GRCh37Chr 18, 52901908: 52901908
14TCF4NM_001083962.1(TCF4): c.748C> T (p.Gln250Ter)single nucleotide variantPathogenicrs727504175GRCh37Chr 18, 52942891: 52942891
15TCF4NM_001083962.1(TCF4): c.655+1G> Tsingle nucleotide variantPathogenicrs587784465GRCh37Chr 18, 52946781: 52946781
16TCF4NM_001083962.1(TCF4): c.1438C> T (p.Gln480Ter)single nucleotide variantPathogenicrs727505396GRCh38Chr 18, 55234596: 55234596
17TCF4NM_001083962.1(TCF4): c.968C> T (p.Ala323Val)single nucleotide variantPathogenicrs797045003GRCh38Chr 18, 55261488: 55261488
18TCF4NM_001083962.1(TCF4): c.1069+1G> Tsingle nucleotide variantPathogenicrs797045072GRCh37Chr 18, 52927179: 52927179
19TCF4NM_001083962.1(TCF4): c.1411C> T (p.Gln471Ter)single nucleotide variantPathogenicrs797046033GRCh37Chr 18, 52901854: 52901854
20TCF4NM_001083962.1(TCF4): c.1871A> C (p.Gln624Pro)single nucleotide variantLikely pathogenicrs797046034GRCh37Chr 18, 52896086: 52896086
21TCF4NM_001083962.1(TCF4): c.1965dupC (p.Gly656Argfs)duplicationLikely pathogenic, Pathogenicrs797046035GRCh37Chr 18, 52895507: 52895507
22TCF4NM_001083962.1(TCF4): c.655+2_655+3insGTinsertionPathogenicrs797046036GRCh37Chr 18, 52946779: 52946780
23TCF4NM_003199.2(TCF4): c.978delAinsGG (p.Ala327Glyfs)indelPathogenicrs863223404GRCh37Chr 18, 52928709: 52928710
24TCF4NM_001083962.1(TCF4): c.550-2A> Gsingle nucleotide variantLikely pathogenicrs863224934GRCh38Chr 18, 55279658: 55279658
25TCF4NM_001083962.1(TCF4): c.1738C> T (p.Arg580Trp)single nucleotide variantPathogenicrs121909120GRCh37Chr 18, 52896219: 52896219
26TCF4NM_001083962.1(TCF4): c.1739G> A (p.Arg580Gln)single nucleotide variantPathogenicrs121909121GRCh37Chr 18, 52896218: 52896218
27TCF4NM_001083962.1(TCF4): c.1153C> T (p.Arg385Ter)single nucleotide variantPathogenicrs121909122GRCh37Chr 18, 52921925: 52921925
28TCF4TCF4, IVS9AS, G-C, -1single nucleotide variantPathogenic
29TCF4NM_001083962.1(TCF4): c.1733G> C (p.Arg578Pro)single nucleotide variantPathogenicrs121909123GRCh37Chr 18, 52896224: 52896224
30TCF4TCF4, 1-BP DEL, 908CdeletionPathogenic
31TCF4NM_001083962.1(TCF4): c.1086G> A (p.Trp362Ter)single nucleotide variantPathogenicrs398123560GRCh37Chr 18, 52924606: 52924606
32TCF4NM_001083962.1(TCF4): c.1733G> A (p.Arg578His)single nucleotide variantPathogenicrs121909123GRCh37Chr 18, 52896224: 52896224
33TCF4NM_001083962.1(TCF4): c.514_517delAAAG (p.Lys172Phefs)deletionPathogenicrs398123561GRCh37Chr 18, 53017622: 53017625

Copy number variations for Pitt-Hopkins Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1122008185110812151312629DeletionTCF4Pitt-Hopkins syndrome

Expression for genes affiliated with Pitt-Hopkins Syndrome

About this section
Search GEO for disease gene expression data for Pitt-Hopkins Syndrome.

Pathways for genes affiliated with Pitt-Hopkins Syndrome

About this section

Pathways related to Pitt-Hopkins Syndrome according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.4MEF2C, TCF4

GO Terms for genes affiliated with Pitt-Hopkins Syndrome

About this section

Cellular components related to Pitt-Hopkins Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1neuronal cell bodyGO:00430259.2ASCL1, CNTNAP2, NRXN1

Biological processes related to Pitt-Hopkins Syndrome according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1vocal learningGO:004229710.2CNTNAP2, NRXN1
2vocalization behaviorGO:007162510.1CNTNAP2, NRXN1
3cerebral cortex developmentGO:002198710.0ASCL1, CNTNAP2
4adult behaviorGO:00305349.9CNTNAP2, NRXN1
5social behaviorGO:00351769.7CNTNAP2, NRXN1
6learningGO:00076129.5CNTNAP2, NRXN1
7neuron developmentGO:00486669.3ASCL1, MEF2C
8positive regulation of neuron differentiationGO:00456669.1ASCL1, MEF2C, TCF4
9neuron migrationGO:00017648.5ASCL1, CDKL5, MEF2C

Molecular functions related to Pitt-Hopkins Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1bHLH transcription factor bindingGO:004342510.2ASCL1, TCF4
2E-box bindingGO:007088810.1ASCL1, TCF4
3RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009788.9ASCL1, MEF2C, TCF4
4chromatin bindingGO:00036828.8ASCL1, MEF2C, TCF4

Sources for Pitt-Hopkins Syndrome

About this section
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