PITA5
MCID: PTT060
MIFTS: 39

Pituitary Adenoma 5, Multiple Types (PITA5)

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

Aliases & Classifications for Pituitary Adenoma 5, Multiple Types

MalaCards integrated aliases for Pituitary Adenoma 5, Multiple Types:

Name: Pituitary Adenoma 5, Multiple Types 57 12 72 29 6
Pita5 57 12 72
Pituitary Adenoma 5 12 15

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
adult onset
incomplete penetrance
adenomas may be functioning or nonfunctioning

Inheritance:
autosomal dominant


HPO:

31
pituitary adenoma 5, multiple types:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset incomplete penetrance


Classifications:



External Ids:

Disease Ontology 12 DOID:0112008
OMIM® 57 617540
OMIM Phenotypic Series 57 PS102200
MeSH 44 D010911
SNOMED-CT via HPO 68 128664001 254956000 263681008

Summaries for Pituitary Adenoma 5, Multiple Types

UniProtKB/Swiss-Prot : 72 Pituitary adenoma 5, multiple types: A form of pituitary adenoma, a neoplasm of the pituitary gland and one of the most common neuroendocrine tumors. Pituitary adenomas are clinically classified as functional and non-functional tumors, and manifest with a variety of features, including local invasion of surrounding structures and excessive hormone secretion. Functional pituitary adenomas are further classified by the type of hormone they secrete: growth hormone (GH)-secreting, prolactin (PRL)-secreting, adrenocorticotropin (ACTH)-secreting, thyroid-stimulating hormone (TSH)-secreting, and plurihormonal (GH and TSH) tumors. Familial and sporadic forms have been reported. The transmission pattern of familial PITA5 is consistent with autosomal dominant inheritance with reduced penetrance.

MalaCards based summary : Pituitary Adenoma 5, Multiple Types, also known as pita5, is related to pituitary adenoma 4, acth-secreting and patulous eustachian tube. An important gene associated with Pituitary Adenoma 5, Multiple Types is CDH23 (Cadherin Related 23), and among its related pathways/superpathways are Formation of Fibrin Clot (Clotting Cascade) and Complement and coagulation cascades. Affiliated tissues include pituitary and thyroid, and related phenotypes are pituitary adenoma and embryo

Disease Ontology : 12 A pituitary adenoma characterized by development of different types of familial or sporadic pituitary adenomas that has material basis in heterozygous mutation in CDH23 on chromosome 10q22.1.

OMIM® : 57 Both familial and sporadic pituitary adenomas have been found to be caused by germline mutation in the CDH23 gene. Familial pituitary adenoma types include growth hormone (GH)-secreting and nonfunctional tumors. Sporadic pituitary adenoma types include GH-secreting, nonfunctional, prolactin (PRL)-secreting, adrenocorticotropin (ACTH)-secreting, thyroid-stimulating hormone (TSH)-secreting, and plurihormonal (GH and TSH) tumors. For a general description and a discussion of genetic heterogeneity of pituitary adenomas, see PITA1 (102200). (617540) (Updated 05-Apr-2021)

Related Diseases for Pituitary Adenoma 5, Multiple Types

Diseases in the Pituitary Adenoma family:

Pituitary Adenoma 1, Multiple Types Pituitary Adenoma 5, Multiple Types
Pituitary Adenoma 3, Multiple Types

Diseases related to Pituitary Adenoma 5, Multiple Types via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 152)
# Related Disease Score Top Affiliating Genes
1 pituitary adenoma 4, acth-secreting 10.3 USP8 CDH23
2 patulous eustachian tube 10.2 CDH23 CALCA
3 acute disseminated encephalomyelitis 10.2 HSPD1 CDH23
4 retinitis pigmentosa-deafness syndrome 10.1 CDH23 C10orf105
5 acute cholangitis 10.1 F2 CALCA
6 glanders 10.1 RAD51 HSPD1
7 haverhill fever 10.1 RAD51 HSPD1
8 retinal artery occlusion 10.0 SERPINC1 F2
9 spinal cord infarction 10.0 SERPINC1 F2
10 lateral sinus thrombosis 10.0 SERPINC1 F2
11 thoracic outlet syndrome 10.0 SERPINC1 F2
12 livedoid vasculitis 10.0 SERPINC1 F2
13 abducens nerve disease 10.0 SERPINC1 F2
14 cholesterol embolism 10.0 SERPINC1 F2
15 prothrombin deficiency, congenital 10.0 SERPINC1 F2
16 mastoiditis 10.0 SERPINC1 F2
17 anterior cerebral artery infarction 10.0 SERPINC1 F2
18 central retinal artery occlusion 10.0 SERPINC1 F2
19 sneddon syndrome 10.0 SERPINC1 F2
20 ischemic colitis 9.9 SERPINC1 F2
21 rocky mountain spotted fever 9.9 HSPD1 F3
22 dysfibrinogenemia, congenital 9.9 SERPINC1 F2
23 achenbach syndrome 9.9 F3 F2
24 antithrombin iii deficiency 9.9 SERPINC1 F2
25 renal pelvis squamous cell carcinoma 9.9 F3 F2
26 synovial angioma 9.9 F3 F2
27 papillary adenofibroma 9.9 F3 F2
28 femoral neuropathy 9.9 F3 F2
29 emphysematous cholecystitis 9.9 F3 F2
30 hemopneumothorax 9.9 F3 F2
31 cerebral falx meningioma 9.9 F3 F2
32 ankylosing spondylitis 1 9.9 F3 F2
33 pulmonary embolism and infarction 9.9 F3 F2
34 acute pulmonary heart disease 9.9 F3 F2
35 epidural abscess 9.9 F3 F2
36 lemierre's syndrome 9.9 F3 F2
37 acute cor pulmonale 9.9 F3 F2
38 posterior cerebral artery infarction 9.9 F3 F2
39 gastric hemangioma 9.9 F3 F2
40 hemopericardium 9.9 F3 F2
41 qualitative platelet defect 9.9 F3 F2
42 mediastinitis 9.9 F3 F2
43 cerebral sinovenous thrombosis 9.9 F3 F2
44 hypersplenism 9.9 SERPINC1 F2
45 acquired von willebrand syndrome 9.9 F3 F2
46 active peptic ulcer disease 9.9 F3 F2
47 splenic sequestration 9.9 F3 F2
48 acute hemorrhagic encephalitis 9.9 F3 F2
49 parametritis 9.9 F3 F2
50 hantavirus pulmonary syndrome 9.9 F3 F2

Graphical network of the top 20 diseases related to Pituitary Adenoma 5, Multiple Types:



Diseases related to Pituitary Adenoma 5, Multiple Types

Symptoms & Phenotypes for Pituitary Adenoma 5, Multiple Types

Human phenotypes related to Pituitary Adenoma 5, Multiple Types:

31
# Description HPO Frequency HPO Source Accession
1 pituitary adenoma 31 HP:0002893

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
pituitary adenoma

Endocrine Features:
pituitary adenoma

Clinical features from OMIM®:

617540 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Pituitary Adenoma 5, Multiple Types:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.1 F2 F3 HSPD1 RAD51 SERPINC1 USP8

Drugs & Therapeutics for Pituitary Adenoma 5, Multiple Types

Search Clinical Trials , NIH Clinical Center for Pituitary Adenoma 5, Multiple Types

Genetic Tests for Pituitary Adenoma 5, Multiple Types

Genetic tests related to Pituitary Adenoma 5, Multiple Types:

# Genetic test Affiliating Genes
1 Pituitary Adenoma 5, Multiple Types 29 CDH23

Anatomical Context for Pituitary Adenoma 5, Multiple Types

MalaCards organs/tissues related to Pituitary Adenoma 5, Multiple Types:

40
Pituitary, Thyroid

Publications for Pituitary Adenoma 5, Multiple Types

Articles related to Pituitary Adenoma 5, Multiple Types:

# Title Authors PMID Year
1
Germline Mutations in CDH23, Encoding Cadherin-Related 23, Are Associated with Both Familial and Sporadic Pituitary Adenomas. 6 57
28413019 2017
2
Anterior interhemispheric approach for removing large sellar region tumor. 61
29901576 2018
3
Pituitary metastasis from medullary carcinoma of thyroid: case report and review of literature. 61
18408891 2008
4
Evaluation of bone mineral density of the peripheral skeleton in pre- and postmenopausal women with newly diagnosed endogenous Cushing's syndrome. 61
14725690 2004
5
Surgical treatment of pituitary tumors in the elderly: clinical outcome and long-term follow-up. 61
12635667 2002
6
Leptin levels in relation to body composition and insulin concentration in patients with endogenous Cushing's syndrome compared to controls matched for body mass index. 61
10908161 2000
7
Diabetes insipidus in neurosurgical patients. 61
9777076 1998
8
[Endocrinological evaluation of sellar and suprasellar tumor cases (the ninth report)--on the PRL levels in the CSF (author's transl)]. 61
909617 1977

Variations for Pituitary Adenoma 5, Multiple Types

ClinVar genetic disease variations for Pituitary Adenoma 5, Multiple Types:

6 (show all 27)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CDH23 NM_022124.6(CDH23):c.9886G>A (p.Asp3296Asn) SNV Pathogenic 437905 rs372388344 GRCh37: 10:73574856-73574856
GRCh38: 10:71815099-71815099
2 CDH23 , C10orf105 NM_022124.6(CDH23):c.4136G>T (p.Arg1379Leu) SNV Pathogenic 437902 rs767004225 GRCh37: 10:73494028-73494028
GRCh38: 10:71734271-71734271
3 CDH23 NM_022124.6(CDH23):c.6344G>A (p.Arg2115His) SNV Pathogenic 437903 rs1270566026 GRCh37: 10:73553029-73553029
GRCh38: 10:71793272-71793272
4 CDH23 NM_022124.6(CDH23):c.9412C>T (p.Arg3138Trp) SNV Pathogenic 437904 rs1052484950 GRCh37: 10:73572268-73572268
GRCh38: 10:71812511-71812511
5 CDH23 NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter) SNV Pathogenic 45943 rs397517329 GRCh37: 10:73498354-73498354
GRCh38: 10:71738597-71738597
6 CDH23 NM_022124.6(CDH23):c.6050-9G>A SNV Pathogenic 46001 rs367928692 GRCh37: 10:73550880-73550880
GRCh38: 10:71791123-71791123
7 CDH23 NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln) SNV Pathogenic 4916 rs111033270 GRCh37: 10:73539073-73539073
GRCh38: 10:71779316-71779316
8 CDH23 NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser) SNV Likely pathogenic 46000 rs183431253 GRCh37: 10:73550170-73550170
GRCh38: 10:71790413-71790413
9 CDH23 , C10orf105 NM_022124.6(CDH23):c.4000C>T (p.Arg1334Trp) SNV Uncertain significance 178685 rs373276722 GRCh37: 10:73492028-73492028
GRCh38: 10:71732271-71732271
10 CDH23 NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val) SNV Uncertain significance 45947 rs374362883 GRCh37: 10:73499432-73499432
GRCh38: 10:71739675-71739675
11 CDH23 NM_022124.6(CDH23):c.5410C>T (p.Arg1804Trp) SNV Uncertain significance 45977 rs376271562 GRCh37: 10:73544085-73544085
GRCh38: 10:71784328-71784328
12 CDH23 NM_022124.6(CDH23):c.1886A>T (p.Tyr629Phe) SNV Uncertain significance 930840 GRCh37: 10:73442229-73442229
GRCh38: 10:71682472-71682472
13 CDH23 NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys) SNV Uncertain significance 45890 rs200649500 GRCh37: 10:73453966-73453966
GRCh38: 10:71694209-71694209
14 CDH23 NM_022124.6(CDH23):c.8644T>C (p.Phe2882Leu) SNV Uncertain significance 300462 rs761210350 GRCh37: 10:73567686-73567686
GRCh38: 10:71807929-71807929
15 CDH23 NM_022124.6(CDH23):c.2846C>T (p.Thr949Ile) SNV Uncertain significance 988716 GRCh37: 10:73464780-73464780
GRCh38: 10:71705023-71705023
16 CDH23 NM_022124.6(CDH23):c.2236G>A (p.Val746Ile) SNV Uncertain significance 162894 rs550384315 GRCh37: 10:73453963-73453963
GRCh38: 10:71694206-71694206
17 CDH23 , C10orf105 NM_022124.6(CDH23):c.3739C>T (p.Arg1247Cys) SNV Uncertain significance 228480 rs202204597 GRCh37: 10:73491767-73491767
GRCh38: 10:71732010-71732010
18 CDH23 NM_022124.6(CDH23):c.5945A>G (p.Asn1982Ser) SNV Uncertain significance 422021 rs555432123 GRCh37: 10:73550066-73550066
GRCh38: 10:71790309-71790309
19 CDH23 , C10orf105 NM_022124.6(CDH23):c.3986G>A (p.Gly1329Asp) SNV Uncertain significance 45934 rs201877610 GRCh37: 10:73492014-73492014
GRCh38: 10:71732257-71732257
20 CDH23 NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val) SNV Uncertain significance 46076 rs111033536 GRCh37: 10:73572583-73572583
GRCh38: 10:71812826-71812826
21 CDH23 NM_022124.6(CDH23):c.2729A>G (p.Tyr910Cys) SNV Uncertain significance 424951 rs557257494 GRCh37: 10:73462447-73462447
GRCh38: 10:71702690-71702690
22 CDH23 NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys) SNV Uncertain significance 46032 rs41281336 GRCh37: 10:73560498-73560498
GRCh38: 10:71800741-71800741
23 CDH23 , C10orf105 NM_022124.6(CDH23):c.3262G>A (p.Val1088Met) SNV Uncertain significance 45912 rs200632520 GRCh37: 10:73472463-73472463
GRCh38: 10:71712706-71712706
24 CDH23 NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln) SNV Uncertain significance 46021 rs201434373 GRCh37: 10:73558192-73558192
GRCh38: 10:71798435-71798435
25 CDH23 NM_022124.6(CDH23):c.9524G>A (p.Arg3175His) SNV Uncertain significance 198370 rs140884994 GRCh37: 10:73572538-73572538
GRCh38: 10:71812781-71812781
26 CDH23 NM_022124.6(CDH23):c.3022G>A (p.Val1008Met) SNV Uncertain significance 166811 rs201053044 GRCh37: 10:73466722-73466722
GRCh38: 10:71706965-71706965
27 CDH23 NM_022124.6(CDH23):c.7049C>T (p.Ser2350Leu) SNV Uncertain significance 96026 rs371522435 GRCh37: 10:73558330-73558330
GRCh38: 10:71798573-71798573

UniProtKB/Swiss-Prot genetic disease variations for Pituitary Adenoma 5, Multiple Types:

72
# Symbol AA change Variation ID SNP ID
1 CDH23 p.Arg1379Leu VAR_080381 rs767004225

Cosmic variations for Pituitary Adenoma 5, Multiple Types:

9 (show top 50) (show all 186)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM86624499 RB1 pituitary,NS,adenoma,ACTH-FSH-GH-LH-PRL c.1861C>A p.R621S 13:48456250-48456250 15
2 COSM87132301 PIK3CA pituitary,NS,adenoma,PRL c.1624G>A p.E542K 3:179218294-179218294 15
3 COSM148932717 PIK3CA pituitary,NS,adenoma,PRL c.1624G>A p.E542K 3:179218294-179218294 15
4 COSM148932735 PIK3CA pituitary,NS,adenoma,PRL c.*153A>G p.? 3:179234230-179234230 15
5 COSM87132318 PIK3CA pituitary,NS,adenoma,PRL c.3073A>G p.T1025A 3:179234230-179234230 15
6 COSM100255374 MEN1 pituitary,NS,adenoma,TSH c.1050-2A>G p.? 11:64805772-64805772 15
7 COSM100204187 MEN1 pituitary,NS,adenoma,TSH c.1050-2A>G p.? 11:64805772-64805772 15
8 COSM92200375 MEN1 pituitary,NS,adenoma,TSH c.1050-2A>G p.? 11:64805772-64805772 15
9 COSM92072553 MEN1 pituitary,NS,adenoma,TSH c.1065-2A>G p.? 11:64805772-64805772 15
10 COSM100173638 MEN1 pituitary,NS,adenoma,TSH c.1065-2A>G p.? 11:64805772-64805772 15
11 COSM99575811 MEN1 pituitary,NS,adenoma,TSH c.1065-2A>G p.? 11:64805772-64805772 15
12 COSM90429831 MEN1 pituitary,NS,adenoma,TSH c.1050-2A>G p.? 11:64805772-64805772 15
13 COSM99563837 MEN1 pituitary,NS,adenoma,TSH c.1065-2A>G p.? 11:64805772-64805772 15
14 COSM100244198 MEN1 pituitary,NS,adenoma,TSH c.945-2A>G p.? 11:64805772-64805772 15
15 COSM101951679 HRAS pituitary,NS,adenoma,PRL c.35G>T p.G12V 11:534288-534288 15
16 COSM101967337 HRAS pituitary,NS,adenoma,PRL c.35G>T p.G12V 11:534288-534288 15
17 COSM105721467 HRAS pituitary,NS,adenoma,PRL c.35G>T p.G12V 11:534288-534288 15
18 COSM91331236 HRAS pituitary,NS,adenoma,GH c.35G>T p.G12V 11:534288-534288 15
19 COSM112988978 HRAS pituitary,NS,adenoma,PRL c.34G>C p.G12R 11:534289-534289 15
20 COSM112988917 HRAS pituitary,NS,adenoma,GH c.35G>T p.G12V 11:534288-534288 15
21 COSM105721542 HRAS pituitary,NS,adenoma,PRL c.34G>C p.G12R 11:534289-534289 15
22 COSM101951743 HRAS pituitary,NS,adenoma,PRL c.34G>C p.G12R 11:534289-534289 15
23 COSM91331304 HRAS pituitary,NS,adenoma,PRL c.34G>C p.G12R 11:534289-534289 15
24 COSM101967380 HRAS pituitary,NS,adenoma,PRL c.34G>C p.G12R 11:534289-534289 15
25 COSM93760866 GNAS pituitary,NS,adenoma,GH c.2530C>T p.R844C 20:58909365-58909365 15
26 COSM93630265 GNAS pituitary,NS,adenoma,GH-alpha SU c.*507C>T p.? 20:58909365-58909365 15
27 COSM87642925 GNAS pituitary,NS,adenoma,GH c.94-402C>T p.? 20:58909365-58909365 15
28 COSM93086636 GNAS pituitary,NS,adenoma,GH c.604C>T p.R202C 20:58909365-58909365 15
29 COSM93726285 GNAS pituitary,NS,adenoma,GH c.559C>T p.R187C 20:58909365-58909365 15
30 COSM93726301 GNAS pituitary,NS,adenoma,GH c.560G>A p.R187H 20:58909366-58909366 15
31 COSM85346237 GNAS pituitary,NS,adenoma,GH c.635A>T p.Q212L 20:58909541-58909541 15
32 COSM85345830 GNAS pituitary,NS,adenoma,GH c.556C>T p.R186C 20:58909365-58909365 15
33 COSM93779606 GNAS pituitary,NS,adenoma,GH c.2488C>T p.R830C 20:58909365-58909365 15
34 COSM89474843 GNAS pituitary,NS,adenoma,GH c.*504C>T p.? 20:58909365-58909365 15
35 COSM93702294 GNAS pituitary,NS,adenoma,GH c.680A>T p.Q227L 20:58909541-58909541 15
36 COSM93701960 GNAS pituitary,NS,adenoma,GH c.601C>T p.R201C 20:58909365-58909365 15
37 COSM85345852 GNAS pituitary,NS,adenoma,GH c.557G>A p.R186H 20:58909366-58909366 15
38 COSM87642939 GNAS pituitary,NS,adenoma,GH c.94-401G>A p.? 20:58909366-58909366 15
39 COSM93726636 GNAS pituitary,NS,adenoma,GH c.638A>T p.Q213L 20:58909541-58909541 15
40 COSM93726530 GNAS pituitary,NS,adenoma,GH c.559C>A p.R187S 20:58909365-58909365 15
41 COSM93086945 GNAS pituitary,NS,adenoma,GH c.683A>T p.Q228L 20:58909541-58909541 15
42 COSM93779631 GNAS pituitary,NS,adenoma,GH c.2489G>A p.R830H 20:58909366-58909366 15
43 COSM93779988 GNAS pituitary,NS,adenoma,GH c.2567A>T p.Q856L 20:58909541-58909541 15
44 COSM93780281 GNAS pituitary,NS,adenoma,GH c.2567A>G p.Q856R 20:58909541-58909541 15
45 COSM93761460 GNAS pituitary,NS,adenoma,GH c.2609A>T p.Q870L 20:58909541-58909541 15
46 COSM93630681 GNAS pituitary,NS,adenoma,GH c.*586A>T p.? 20:58909541-58909541 15
47 COSM87643126 GNAS pituitary,NS,adenoma,GH c.94-402C>A p.? 20:58909365-58909365 15
48 COSM93702186 GNAS pituitary,NS,adenoma,GH c.601C>A p.R201S 20:58909365-58909365 15
49 COSM93086649 GNAS pituitary,NS,adenoma,GH c.605G>A p.R202H 20:58909366-58909366 15
50 COSM93761837 GNAS pituitary,NS,adenoma,GH c.2609A>G p.Q870R 20:58909541-58909541 15

Expression for Pituitary Adenoma 5, Multiple Types

Search GEO for disease gene expression data for Pituitary Adenoma 5, Multiple Types.

Pathways for Pituitary Adenoma 5, Multiple Types

Pathways related to Pituitary Adenoma 5, Multiple Types according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.33 SERPINC1 F3 F2
2 10.96 SERPINC1 F3 F2

GO Terms for Pituitary Adenoma 5, Multiple Types

Biological processes related to Pituitary Adenoma 5, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.5 SERPINC1 F2 CALCA
2 blood coagulation GO:0007596 9.43 SERPINC1 F3 F2
3 response to heat GO:0009408 9.4 HSPD1 CALCA
4 cellular response to nerve growth factor stimulus GO:1990090 9.37 USP8 CALCA
5 regulation of blood coagulation GO:0030193 9.16 SERPINC1 F2
6 hemostasis GO:0007599 9.13 SERPINC1 F3 F2
7 regulation of cytosolic calcium ion concentration GO:0051480 8.8 F2 CDH23 CALCA

Molecular functions related to Pituitary Adenoma 5, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipopolysaccharide binding GO:0001530 8.96 HSPD1 F2
2 protease binding GO:0002020 8.8 SERPINC1 HSPD1 F3

Sources for Pituitary Adenoma 5, Multiple Types

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