TOC
MCID: TYL002
MIFTS: 38

Tylosis with Esophageal Cancer (TOC)

Categories: Cancer diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Tylosis with Esophageal Cancer

MalaCards integrated aliases for Tylosis with Esophageal Cancer:

Name: Tylosis with Esophageal Cancer 58 54 76 13 74
Keratosis Palmaris Et Plantaris with Esophageal Cancer 58 54 76
Howel-Evans Syndrome 54 30 6
Toc 58 54 76
Palmoplantar Hyperkeratosis-Esophageal Carcinoma Syndrome 54 60
Keratosis Palmoplantaris-Esophageal Carcinoma Syndrome 54 60
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome 54 60
Tylosis-Oesophageal Carcinoma Syndrome 54 60
Bennion-Patterson Syndrome 54 60
Howell-Evans Syndrome 54 60
Palmoplantar Keratoderma with Esophageal Cancer 58
Keratosis Palmoplantaris with Esophageal Cancer 54
Tylosis - Oesophageal Carcinoma 54
Tylosis, with Esophageal Cancer 41
Howel-Evans' Syndrome 74

Characteristics:

Orphanet epidemiological data:

60
palmoplantar keratoderma-esophageal carcinoma syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult; Age of death: any age;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset of palmoplantar hyperkeratosis 7-8 years of age


HPO:

33
tylosis with esophageal cancer:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Tylosis with Esophageal Cancer

OMIM : 58 Palmoplantar keratoderma (PPK) is a complex group of hereditary syndromes that have been classified into diffuse, punctate, and focal forms according to the pattern of hyperkeratosis on the palms and soles (Lucker et al., 1994). For a discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma, see epidermolytic PPK (144200). (148500)

MalaCards based summary : Tylosis with Esophageal Cancer, also known as keratosis palmaris et plantaris with esophageal cancer, is related to papillon-lefevre syndrome and evans' syndrome. An important gene associated with Tylosis with Esophageal Cancer is RHBDF2 (Rhomboid 5 Homolog 2). Affiliated tissues include skin, thyroid and pituitary, and related phenotypes are nausea and vomiting and palmoplantar keratoderma

NIH Rare Diseases : 54 Tylosis with esophageal cancer (TOC) is an inherited condition characterized by palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosomal dominant pattern.

UniProtKB/Swiss-Prot : 76 Tylosis with esophageal cancer: An autosomal dominant syndrome characterized by diffuse palmoplantar keratoderma, oral leukokeratosis, and a high lifetime risk of esophageal cancer.

Wikipedia : 77 Howel–Evans syndrome is an extremely rare condition involving thickening of the skin in the palms of the... more...

Related Diseases for Tylosis with Esophageal Cancer

Graphical network of the top 20 diseases related to Tylosis with Esophageal Cancer:



Diseases related to Tylosis with Esophageal Cancer

Symptoms & Phenotypes for Tylosis with Esophageal Cancer

Human phenotypes related to Tylosis with Esophageal Cancer:

60 33 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 60 33 hallmark (90%) Very frequent (99-80%) HP:0002017
2 palmoplantar keratoderma 60 33 hallmark (90%) Very frequent (99-80%) HP:0000982
3 gastrointestinal hemorrhage 60 33 hallmark (90%) Very frequent (99-80%) HP:0002239
4 esophageal neoplasm 60 33 hallmark (90%) Very frequent (99-80%) HP:0100751
5 abnormal large intestine morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0002250
6 dysphagia 60 33 frequent (33%) Frequent (79-30%) HP:0002015
7 hepatomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002240
8 gastroesophageal reflux 60 33 frequent (33%) Frequent (79-30%) HP:0002020
9 ascites 60 33 frequent (33%) Frequent (79-30%) HP:0001541
10 weight loss 60 33 frequent (33%) Frequent (79-30%) HP:0001824
11 poor suck 60 33 frequent (33%) Frequent (79-30%) HP:0002033
12 poor appetite 60 33 frequent (33%) Frequent (79-30%) HP:0004396
13 abnormality of the mediastinum 60 33 frequent (33%) Frequent (79-30%) HP:0045026
14 clubbing of toes 60 33 occasional (7.5%) Occasional (29-5%) HP:0100760
15 parakeratosis 33 HP:0001036
16 neoplasm 33 HP:0002664
17 abnormality of the mouth 33 HP:0000153
18 esophageal carcinoma 33 HP:0011459
19 abnormality of esophagus physiology 60 Frequent (79-30%)
20 diffuse palmoplantar hyperkeratosis 33 HP:0007447

Symptoms via clinical synopsis from OMIM:

58
Neoplasia:
esophageal carcinoma

Skin Nails Hair Skin:
hyperkeratosis, diffuse palmoplantar (tylosis)

Skin Nails Hair Skin Electron Microscopy:
buccal mucosa shows markedly indented nuclei in basal cell layer, electron-dense intranuclear particles, abnormally shaped enlarged keratohyalin granules, and cytoplasmic vacuoles

Head And Neck Mouth:
buccal mucosa preleukoplakia (childhood)
buccal mucosa leukoplakia

Skin Nails Hair Skin Histology:
buccal mucosa shows acanthosis, parakeratosis, spongiosis without atypia

Clinical features from OMIM:

148500

Drugs & Therapeutics for Tylosis with Esophageal Cancer

Search Clinical Trials , NIH Clinical Center for Tylosis with Esophageal Cancer

Genetic Tests for Tylosis with Esophageal Cancer

Genetic tests related to Tylosis with Esophageal Cancer:

# Genetic test Affiliating Genes
1 Howel-Evans Syndrome 30 RHBDF2

Anatomical Context for Tylosis with Esophageal Cancer

MalaCards organs/tissues related to Tylosis with Esophageal Cancer:

42
Skin, Thyroid, Pituitary, Testes, Pancreas, Ovary, Eye

Publications for Tylosis with Esophageal Cancer

Articles related to Tylosis with Esophageal Cancer:

(show top 50) (show all 251)
# Title Authors Year
1
Whole Exome Sequencing Identified a Novel Mutation of the RHBDF2 Gene in a Chinese Family of Tylosis with Esophageal Cancer. ( 30938830 )
2019
2
Predictive Value of 99MTC-hynic-toc Scintigraphy in Lung Neuroendocrine Tumor Diagnosis. ( 31079574 )
2019
3
99mTc-HYNIC-TOC in the Evaluation of Recurrent Tumor-Induced Osteomalacia. ( 30672760 )
2019
4
Vascular endothelial growth factor receptor 2 (VEGFR2) correlates with long-term survival in patients with advanced high-grade serous ovarian cancer (HGSOC): a study from the Tumor Bank Ovarian Cancer (TOC) Consortium. ( 30810838 )
2019
5
Tc-99m HYNIC-TOC scintigraphy in dedifferentiated thyroid cancer. ( 30940668 )
2019
6
Clinical usefulness of 99mTc-HYNIC-TOC, 99mTc(V)-DMSA, and 99mTc-MIBI SPECT in the evaluation of pituitary adenomas. ( 30334858 )
2019
7
Issue Information - ToC. ( 30578727 )
2019
8
Effect of dissolved oxygen on efficiency of TOC reduction by UV at 185 nm in an ultrapure water production system. ( 30769274 )
2019
9
Structural Considerations of Folded Protein Import through the Chloroplast TOC/TIC Translocons. ( 30775779 )
2019
10
Issue Information - ToC. ( 30829437 )
2019
11
Variability of TOC and DBPs (THMs and HAA5) in drinking water sources and distribution system in drought season: the North Iran case study. ( 31107636 )
2019
12
Integration of Community Pharmacists in Transition of Care (TOC) Services: Current Trends and Pharmacist Perceptions. ( 29061080 )
2019
13
68Ga-DOTA-TOC Uptake in Pleomorphic Adenoma. ( 29847321 )
2018
14
A Mixed Variant of Castleman Disease Detected by Somatostatin Receptor Scintigraphy with 99mTc-HYNIC-TOC and 18F-FDG PET/CT. ( 30516666 )
2018
15
RHBDF2-Regulated Growth Factor Signaling in a Rare Human Disease, Tylosis With Esophageal Cancer: What Can We Learn From Murine Models? ( 30022999 )
2018
16
A Rare Case of Retroperitoneal Follicular Dendritic Cell Sarcoma Identified by 99mTc-HYNIC-TOC SPECT/CT. ( 29863574 )
2018
17
Diagnostic performance and impact on patient management of 68Ga-DOTA-TOC PET/CT for detecting osteomalacia-associated tumours. ( 29532101 )
2018
18
Trial of intraoperative cell salvage versus transfusion in ovarian cancer (TIC TOC): protocol for a randomised controlled feasibility study. ( 30389760 )
2018
19
Multiple Cutaneous Metastases on 99mTC-HYNIC-TOC Scan in a Rare Case of Malignant Laryngeal Paraganglioma. ( 30386061 )
2018
20
A rare case of a 123I-MIBG SPECT/CT positive, but 68Ga-DOTA-TOC PET/CT negative pheochromocytoma of the bladder. ( 30042056 )
2018
21
Unicentric Castleman's Disease Revealed by 18F-FDG PET/CT and Somatostatin Receptor Scintigraphy With 99mTc-HYNIC-TOC. ( 29742598 )
2018
22
Automated Synthesis of 68Ga-DOTA-TOC with a Cationic Purification System: Evaluation of Methodological and Technical Aspects in Routine Preparations. ( 29745348 )
2018
23
Modified APHA closed-tube reflux colorimetric method for TOC determination in water and wastewater. ( 29850927 )
2018
24
Clinical application of 99mTc-HYNIC-TOC SPECT/CT in diagnosing and monitoring of pancreatic neuroendocrine neoplasms. ( 29926342 )
2018
25
Biological floating bed and bio-contact oxidation processes for landscape water treatment: simultaneous removal of Microcystis aeruginosa, TOC, nitrogen and phosphorus. ( 29948705 )
2018
26
99mTc-Hynic-TOC imaging in the diagnostic of neuroendocrine tumors. ( 30034278 )
2018
27
Evaluating the Functional Pore Size of Chloroplast TOC and TIC Protein Translocons: Import of Folded Proteins. ( 30104404 )
2018
28
Tic-Tac-Toe: How TIC and TOC Coordinate Getting Proteins across the Line. ( 30111614 )
2018
29
Clinical value of 99mTc-HYNIC-TOC SPECT/CT for the diagnosis primary small cell neuroendocrine carcinomas of the nasal cavity and paranasal sinuses. ( 30248495 )
2018
30
Traumatic injury clinical trial evaluating tranexamic acid in children (TIC-TOC): study protocol for a pilot randomized controlled trial. ( 30376893 )
2018
31
Issue Information - ToC. ( 30516332 )
2018
32
68Ga-DOTA-TOC PET/CT of von Hippel-Lindau Disease. ( 30516678 )
2018
33
Issue Information - TOC. ( 30917216 )
2018
34
Unexpected detection of non-palpable breast ductal invasive carcinoma with 99mTc-HYNIC-TOC (Tektrotyd®). ( 28330697 )
2018
35
Issue Information - ToC. ( 29283487 )
2018
36
Tylosis associated with squamous cell carcinoma of the oesophagus (TOC): Report of an African family with a novel RHBDF2 variant. ( 29372562 )
2018
37
TOC. ( 29413447 )
2018
38
Environmental risk assessment of selected organic chemicals based on TOC test and QSAR estimation models. ( 29478644 )
2018
39
Issue Information - ToC. ( 29489043 )
2018
40
Organic matter geochemical signatures (TOC, TN, C/N ratio, δ13C and δ15N) of surface sediment from lakes distributed along a climatological gradient on the western side of the southern Andes. ( 29499543 )
2018
41
Vertebral metastases from neuroendocrine tumours: How to avoid false positives on 68Ga-DOTA-TOC PET using CT pattern analysis? ( 29532242 )
2018
42
Issue Information - ToC. ( 29596729 )
2018
43
Pituitary Adenoma Recurrence Suspected on Central Hyperthyroidism Despite Empty Sella and Confirmed by 68Ga-DOTA-TOC PET/CT. ( 28263215 )
2017
44
Glomus Tumor of the Neck Detected With 99mTc EDDA HYNIC-TOC. ( 28806247 )
2017
45
Somatostatin Receptor SPECT/CT using 99mTc Labeled HYNIC-TOC Aids in Diagnosis of Primary Optic Nerve Sheath Meningioma. ( 28242992 )
2017
46
Use of COD, TOC, and Fluorescence Spectroscopy to Estimate BOD in Wastewater. ( 27074790 )
2017
47
Study of the degradation performance (TOC, BOD, and toxicity) of bisphenol A by the photo-Fenton process. ( 27640057 )
2017
48
Chinese TOC. ( 28081024 )
2017
49
Physiological expression of pancreatic somatostatin receptors in 99mTc-HYNIC-TOC scintigraphy. ( 28144828 )
2017
50
Incremental value of 99mTc-HYNIC-TOC SPECT/CT over whole-body planar scintigraphy and SPECT in patients with neuroendocrine tumours. ( 28164207 )
2017

Variations for Tylosis with Esophageal Cancer

UniProtKB/Swiss-Prot genetic disease variations for Tylosis with Esophageal Cancer:

76
# Symbol AA change Variation ID SNP ID
1 RHBDF2 p.Ile186Thr VAR_067827 rs387907129
2 RHBDF2 p.Pro189Leu VAR_067828 rs387907130

ClinVar genetic disease variations for Tylosis with Esophageal Cancer:

6 (show top 50) (show all 160)
# Gene Variation Type Significance SNP ID Assembly Location
1 RHBDF2 NM_024599.5(RHBDF2): c.557T> C (p.Ile186Thr) single nucleotide variant Pathogenic rs387907129 GRCh37 Chromosome 17, 74475090: 74475090
2 RHBDF2 NM_024599.5(RHBDF2): c.557T> C (p.Ile186Thr) single nucleotide variant Pathogenic rs387907129 GRCh38 Chromosome 17, 76479008: 76479008
3 RHBDF2 NM_024599.5(RHBDF2): c.566C> T (p.Pro189Leu) single nucleotide variant Pathogenic rs387907130 GRCh37 Chromosome 17, 74475081: 74475081
4 RHBDF2 NM_024599.5(RHBDF2): c.566C> T (p.Pro189Leu) single nucleotide variant Pathogenic rs387907130 GRCh38 Chromosome 17, 76478999: 76478999
5 RHBDF2 NM_024599.5(RHBDF2): c.1091G> A (p.Arg364Gln) single nucleotide variant Likely benign rs146134173 GRCh37 Chromosome 17, 74473023: 74473023
6 RHBDF2 NM_024599.5(RHBDF2): c.1091G> A (p.Arg364Gln) single nucleotide variant Likely benign rs146134173 GRCh38 Chromosome 17, 76476941: 76476941
7 RHBDF2 NM_024599.5(RHBDF2): c.700C> T (p.Arg234Cys) single nucleotide variant Likely benign rs138968491 GRCh37 Chromosome 17, 74474947: 74474947
8 RHBDF2 NM_024599.5(RHBDF2): c.700C> T (p.Arg234Cys) single nucleotide variant Likely benign rs138968491 GRCh38 Chromosome 17, 76478865: 76478865
9 RHBDF2 NM_024599.5(RHBDF2): c.633G> A (p.Pro211=) single nucleotide variant Likely benign rs3744044 GRCh37 Chromosome 17, 74475014: 74475014
10 RHBDF2 NM_024599.5(RHBDF2): c.633G> A (p.Pro211=) single nucleotide variant Likely benign rs3744044 GRCh38 Chromosome 17, 76478932: 76478932
11 RHBDF2 NM_024599.5(RHBDF2): c.446T> C (p.Met149Thr) single nucleotide variant Uncertain significance rs367658130 GRCh37 Chromosome 17, 74475273: 74475273
12 RHBDF2 NM_024599.5(RHBDF2): c.446T> C (p.Met149Thr) single nucleotide variant Uncertain significance rs367658130 GRCh38 Chromosome 17, 76479191: 76479191
13 RHBDF2 NM_024599.5(RHBDF2): c.414G> T (p.Gln138His) single nucleotide variant Uncertain significance rs763124357 GRCh37 Chromosome 17, 74475305: 74475305
14 RHBDF2 NM_024599.5(RHBDF2): c.414G> T (p.Gln138His) single nucleotide variant Uncertain significance rs763124357 GRCh38 Chromosome 17, 76479223: 76479223
15 RHBDF2 NM_024599.5(RHBDF2): c.401G> A (p.Gly134Glu) single nucleotide variant Likely benign rs142642633 GRCh38 Chromosome 17, 76479236: 76479236
16 RHBDF2 NM_024599.5(RHBDF2): c.401G> A (p.Gly134Glu) single nucleotide variant Likely benign rs142642633 GRCh37 Chromosome 17, 74475318: 74475318
17 RHBDF2 NM_024599.5(RHBDF2): c.31G> A (p.Val11Met) single nucleotide variant Likely benign rs142019309 GRCh38 Chromosome 17, 76481494: 76481494
18 RHBDF2 NM_024599.5(RHBDF2): c.31G> A (p.Val11Met) single nucleotide variant Likely benign rs142019309 GRCh37 Chromosome 17, 74477576: 74477576
19 RHBDF2 NM_024599.5(RHBDF2): c.875C> T (p.Ser292Phe) single nucleotide variant Benign rs116968311 GRCh37 Chromosome 17, 74473752: 74473752
20 RHBDF2 NM_024599.5(RHBDF2): c.875C> T (p.Ser292Phe) single nucleotide variant Benign rs116968311 GRCh38 Chromosome 17, 76477670: 76477670
21 RHBDF2 NM_024599.5(RHBDF2): c.768G> A (p.Ser256=) single nucleotide variant Likely benign rs33995520 GRCh37 Chromosome 17, 74473859: 74473859
22 RHBDF2 NM_024599.5(RHBDF2): c.768G> A (p.Ser256=) single nucleotide variant Likely benign rs33995520 GRCh38 Chromosome 17, 76477777: 76477777
23 RHBDF2 NM_024599.5(RHBDF2): c.745G> A (p.Ala249Thr) single nucleotide variant Benign rs34814954 GRCh37 Chromosome 17, 74474902: 74474902
24 RHBDF2 NM_024599.5(RHBDF2): c.745G> A (p.Ala249Thr) single nucleotide variant Benign rs34814954 GRCh38 Chromosome 17, 76478820: 76478820
25 RHBDF2 NM_024599.5(RHBDF2): c.612G> A (p.Arg204=) single nucleotide variant Likely benign rs151290253 GRCh37 Chromosome 17, 74475035: 74475035
26 RHBDF2 NM_024599.5(RHBDF2): c.612G> A (p.Arg204=) single nucleotide variant Likely benign rs151290253 GRCh38 Chromosome 17, 76478953: 76478953
27 RHBDF2 NM_024599.5(RHBDF2): c.478C> T (p.Arg160Cys) single nucleotide variant Uncertain significance rs751482282 GRCh37 Chromosome 17, 74475241: 74475241
28 RHBDF2 NM_024599.5(RHBDF2): c.478C> T (p.Arg160Cys) single nucleotide variant Uncertain significance rs751482282 GRCh38 Chromosome 17, 76479159: 76479159
29 RHBDF2 NM_024599.5(RHBDF2): c.364G> A (p.Ala122Thr) single nucleotide variant Likely benign rs114238341 GRCh38 Chromosome 17, 76479273: 76479273
30 RHBDF2 NM_024599.5(RHBDF2): c.364G> A (p.Ala122Thr) single nucleotide variant Likely benign rs114238341 GRCh37 Chromosome 17, 74475355: 74475355
31 RHBDF2 NM_024599.5(RHBDF2): c.28A> C (p.Ser10Arg) single nucleotide variant Benign rs80133178 GRCh38 Chromosome 17, 76481497: 76481497
32 RHBDF2 NM_024599.5(RHBDF2): c.28A> C (p.Ser10Arg) single nucleotide variant Benign rs80133178 GRCh37 Chromosome 17, 74477579: 74477579
33 RHBDF2 NM_024599.5(RHBDF2): c.-14G> A single nucleotide variant Benign rs12943385 GRCh38 Chromosome 17, 76481538: 76481538
34 RHBDF2 NM_024599.5(RHBDF2): c.-14G> A single nucleotide variant Benign rs12943385 GRCh37 Chromosome 17, 74477620: 74477620
35 RHBDF2 NM_024599.5(RHBDF2): c.-272C> A single nucleotide variant Likely benign rs551777579 GRCh38 Chromosome 17, 76501405: 76501405
36 RHBDF2 NM_024599.5(RHBDF2): c.-272C> A single nucleotide variant Likely benign rs551777579 GRCh37 Chromosome 17, 74497487: 74497487
37 RHBDF2 NM_024599.5(RHBDF2): c.*711A> G single nucleotide variant Likely benign rs137910466 GRCh37 Chromosome 17, 74467004: 74467004
38 RHBDF2 NM_024599.5(RHBDF2): c.*711A> G single nucleotide variant Likely benign rs137910466 GRCh38 Chromosome 17, 76470922: 76470922
39 RHBDF2 NM_024599.5(RHBDF2): c.*698C> G single nucleotide variant Benign rs8150 GRCh37 Chromosome 17, 74467017: 74467017
40 RHBDF2 NM_024599.5(RHBDF2): c.*698C> G single nucleotide variant Benign rs8150 GRCh38 Chromosome 17, 76470935: 76470935
41 RHBDF2 NM_024599.5(RHBDF2): c.*580C> T single nucleotide variant Benign rs111924263 GRCh37 Chromosome 17, 74467135: 74467135
42 RHBDF2 NM_024599.5(RHBDF2): c.*580C> T single nucleotide variant Benign rs111924263 GRCh38 Chromosome 17, 76471053: 76471053
43 RHBDF2 NM_024599.5(RHBDF2): c.*551G> T single nucleotide variant Likely benign rs2289801 GRCh37 Chromosome 17, 74467164: 74467164
44 RHBDF2 NM_024599.5(RHBDF2): c.*551G> T single nucleotide variant Likely benign rs2289801 GRCh38 Chromosome 17, 76471082: 76471082
45 RHBDF2 NM_024599.5(RHBDF2): c.*551G> A single nucleotide variant Benign rs2289801 GRCh37 Chromosome 17, 74467164: 74467164
46 RHBDF2 NM_024599.5(RHBDF2): c.*551G> A single nucleotide variant Benign rs2289801 GRCh38 Chromosome 17, 76471082: 76471082
47 RHBDF2 NM_024599.5(RHBDF2): c.*331dupG duplication Benign rs58073681 GRCh37 Chromosome 17, 74467384: 74467384
48 RHBDF2 NM_024599.5(RHBDF2): c.*331dupG duplication Benign rs58073681 GRCh38 Chromosome 17, 76471302: 76471302
49 RHBDF2 NM_024599.5(RHBDF2): c.*310G> A single nucleotide variant Uncertain significance rs886053466 GRCh37 Chromosome 17, 74467405: 74467405
50 RHBDF2 NM_024599.5(RHBDF2): c.*310G> A single nucleotide variant Uncertain significance rs886053466 GRCh38 Chromosome 17, 76471323: 76471323

Expression for Tylosis with Esophageal Cancer

Search GEO for disease gene expression data for Tylosis with Esophageal Cancer.

Pathways for Tylosis with Esophageal Cancer

GO Terms for Tylosis with Esophageal Cancer

Sources for Tylosis with Esophageal Cancer

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....