MCID: ANT003
MIFTS: 50

Antley-Bixler Syndrome

Categories: Rare diseases, Bone diseases, Genetic diseases

Aliases & Classifications for Antley-Bixler Syndrome

MalaCards integrated aliases for Antley-Bixler Syndrome:

Name: Antley-Bixler Syndrome 12 36 28 51 14
Antley-Bixler Syndrome Phenotype 41 69
Multisynostotic Osteodysgenesis with Long Bone Fractures 49
Osteodysgenesis, Multisynostotic with Fractures 49
Antley-Bixler Syndrome, Autosomal Dominant 69
Trapezoidocephaly-Synostosis Syndrome 12
Trapezoidocephaly Synostosis Syndrome 49
Antley Bixler Syndrome 49

Classifications:



Summaries for Antley-Bixler Syndrome

NIH Rare Diseases : 49 Antley Bixler syndrome is a rare condition that is primarily characterized by craniofacial abnormalities and other skeletal problems. The signs and symptoms vary significantly from person to person but may include craniosynostosis; midface hypoplasia (underdeveloped middle region of the face); frontal bossing; protruding eyes; low-set, unusually-formed ears; choanal atresia or stenosis (narrowing); fusion of adjacent arm bones (synostosis); joint contractures; arachnodactyly; bowing of the thigh bones; and/or urogenital (urinary tract and genital) abnormalities. The exact underlying cause of Antley Bixler syndrome is unknown in many cases; however, some are due to changes (mutations) in the FGFR2 gene or the POR gene. There appear to be autosomal dominant and autosomal recessive forms of the condition. Treatment is based on the signs and symptoms present in each person. Last updated: 6/16/2015

MalaCards based summary : Antley-Bixler Syndrome, also known as antley-bixler syndrome phenotype, is related to antley-bixler syndrome without genital anomalies or disordered steroidogenesis and cytochrome p450 oxidoreductase deficiency, and has symptoms including narrow mouth, cleft palate and brachycephaly. An important gene associated with Antley-Bixler Syndrome is POR (Cytochrome P450 Oxidoreductase), and among its related pathways/superpathways are Cytochrome P450 - arranged by substrate type and Central carbon metabolism in cancer. The drug Phytosterol has been mentioned in the context of this disorder. Affiliated tissues include bone and eye, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Disease Ontology : 12 An autosomal recessive disease that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene.

Related Diseases for Antley-Bixler Syndrome

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

(show all 49)
# Related Disease Score Top Affiliating Genes
1 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 34.7 FGFR2 POR
2 cytochrome p450 oxidoreductase deficiency 32.5 CYP17A1 CYP21A2 POR
3 radioulnar synostosis 30.6 FGFR1 FGFR2
4 synostosis 30.4 FGFR1 FGFR2
5 lipoid congenital adrenal hyperplasia 30.3 CYP17A1 CYP21A2 POR
6 luteoma 30.2 CYP19A1 CYP21A2 FGFR2
7 antley-bixler syndrome with genital anomalies and disordered steroidogenesis 12.8
8 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency 12.2
9 bartter syndrome, type 2, antenatal 11.2
10 bartter syndrome, type 1, antenatal 11.2
11 plagiocephaly 10.2 FGFR1 FGFR2
12 osteoglophonic dysplasia 10.2 FGFR1 FGFR2
13 jackson-weiss syndrome 10.2 FGFR1 FGFR2
14 hypochondroplasia 10.2 FGFR1 FGFR2
15 tracheoesophageal fistula with or without esophageal atresia 10.2
16 esophageal atresia 10.2
17 esophagitis 10.2
18 chiari malformation 10.2
19 ramer ladda syndrome 10.2
20 apert syndrome 10.2 FGFR1 FGFR2
21 crouzon syndrome 10.2 FGFR1 FGFR2
22 lacrimoauriculodentodigital syndrome 10.1 FGFR1 FGFR2
23 achondroplasia 10.1 FGFR1 FGFR2
24 muenke syndrome 10.1 FGFR1 FGFR2
25 bone development disease 10.1 FGFR1 FGFR2
26 alopecia, androgenetic, 1 10.1 CYP19A1 CYP21A2
27 precocious puberty 10.1 CYP19A1 CYP21A2
28 testicular leydig cell tumor 10.0 CYP17A1 CYP21A2
29 mammographic density 10.0 CYP17A1 CYP19A1
30 steroid inherited metabolic disorder 10.0 CYP17A1 CYP21A2
31 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 10.0 CYP17A1 CYP21A2
32 mycetoma 10.0 CYP17A1 CYP19A1
33 estrogen-receptor positive breast cancer 10.0 CYP19A1 FGFR2
34 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 10.0 CYP17A1 CYP21A2
35 adrenal cortical adenoma 10.0 CYP17A1 CYP21A2
36 pseudohermaphroditism 10.0 CYP17A1 CYP19A1
37 craniosynostosis 10.0 FGFR1 FGFR2 POR
38 saethre-chotzen syndrome 9.9 FGFR1 FGFR2
39 adrenal adenoma 9.9 CYP17A1 CYP21A2
40 pfeiffer syndrome 9.9 FGFR1 FGFR2
41 leiomyoma, uterine 9.9 CYP17A1 CYP19A1
42 female reproductive system disease 9.8 CYP17A1 CYP19A1
43 adrenal carcinoma 9.8 CYP17A1 CYP21A2
44 transsexualism 9.7 CYP17A1 CYP19A1 CYP21A2
45 sex differentiation disease 9.7 CYP17A1 CYP19A1 CYP21A2
46 leydig cell tumor 9.7 CYP17A1 CYP19A1 CYP21A2
47 adrenocortical carcinoma, hereditary 9.7 CYP17A1 CYP19A1 CYP21A2
48 hyperandrogenism 9.7 CYP17A1 CYP19A1 CYP21A2
49 polycystic ovary syndrome 9.6 CYP17A1 CYP19A1 CYP21A2

Graphical network of the top 20 diseases related to Antley-Bixler Syndrome:



Diseases related to Antley-Bixler Syndrome

Symptoms & Phenotypes for Antley-Bixler Syndrome

Human phenotypes related to Antley-Bixler Syndrome:

31 (show all 30)
# Description HPO Frequency HPO Source Accession
1 narrow mouth 31 occasional (7.5%) HP:0000160
2 cleft palate 31 occasional (7.5%) HP:0000175
3 brachycephaly 31 hallmark (90%) HP:0000248
4 turricephaly 31 occasional (7.5%) HP:0000262
5 delayed cranial suture closure 31 hallmark (90%) HP:0000270
6 hypertelorism 31 occasional (7.5%) HP:0000316
7 long philtrum 31 occasional (7.5%) HP:0000343
8 low-set, posteriorly rotated ears 31 hallmark (90%) HP:0000368
9 choanal atresia 31 frequent (33%) HP:0000453
10 anteverted nares 31 hallmark (90%) HP:0000463
11 strabismus 31 occasional (7.5%) HP:0000486
12 downslanted palpebral fissures 31 occasional (7.5%) HP:0000494
13 proptosis 31 frequent (33%) HP:0000520
14 abnormality of the ribs 31 hallmark (90%) HP:0000772
15 narrow chest 31 hallmark (90%) HP:0000774
16 arachnodactyly 31 hallmark (90%) HP:0001166
17 craniosynostosis 31 frequent (33%) HP:0001363
18 joint stiffness 31 hallmark (90%) HP:0001387
19 talipes 31 occasional (7.5%) HP:0001883
20 frontal bossing 31 hallmark (90%) HP:0002007
21 recurrent fractures 31 occasional (7.5%) HP:0002757
22 femoral bowing 31 hallmark (90%) HP:0002980
23 elbow ankylosis 31 hallmark (90%) HP:0003070
24 short nose 31 hallmark (90%) HP:0003196
25 narrow pelvis bone 31 hallmark (90%) HP:0003275
26 underdeveloped supraorbital ridges 31 occasional (7.5%) HP:0009891
27 hypoplasia of the zygomatic bone 31 hallmark (90%) HP:0010669
28 abnormal renal morphology 31 frequent (33%) HP:0012210
29 abnormality of cardiovascular system morphology 31 hallmark (90%) HP:0030680
30 camptodactyly of finger 31 hallmark (90%) HP:0100490

GenomeRNAi Phenotypes related to Antley-Bixler Syndrome according to GeneCards Suite gene sharing:

25 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.64 CYP17A1 CYP21A2 FGFR1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.64 CYP21A2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.64 FGFR1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.64 FGFR1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.64 CYP21A2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.64 CYP17A1 FGFR1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.64 FGFR1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.64 CYP21A2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.64 CYP17A1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.64 CYP21A2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.64 FGFR1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.64 FGFR1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.64 FGFR1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.64 CYP21A2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.64 FGFR1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.64 CYP17A1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.64 CYP21A2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.64 FGFR1

MGI Mouse Phenotypes related to Antley-Bixler Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.85 FGFR2 CYP17A1 POR CYP19A1 CYP51A1 FGFR1
2 craniofacial MP:0005382 9.71 FGFR1 FGFR2 POR CYP51A1
3 muscle MP:0005369 9.65 FGFR2 POR CYP19A1 CYP51A1 FGFR1
4 limbs/digits/tail MP:0005371 9.62 FGFR2 POR CYP51A1 FGFR1
5 renal/urinary system MP:0005367 9.55 FGFR2 POR CYP17A1 CYP19A1 FGFR1
6 reproductive system MP:0005389 9.35 FGFR2 CYP17A1 POR CYP19A1 FGFR1
7 skeleton MP:0005390 9.02 FGFR2 CYP17A1 CYP19A1 CYP51A1 FGFR1

Drugs & Therapeutics for Antley-Bixler Syndrome

Drugs for Antley-Bixler Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Phytosterol Nutraceutical

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Inborn Errors of Cholesterol Synthesis and Related Disorders Recruiting NCT00046202

Search NIH Clinical Center for Antley-Bixler Syndrome

Cochrane evidence based reviews: antley-bixler syndrome phenotype

Genetic Tests for Antley-Bixler Syndrome

Genetic tests related to Antley-Bixler Syndrome:

# Genetic test Affiliating Genes
1 Antley-Bixler Syndrome 28

Anatomical Context for Antley-Bixler Syndrome

MalaCards organs/tissues related to Antley-Bixler Syndrome:

38
Bone, Eye

Publications for Antley-Bixler Syndrome

Articles related to Antley-Bixler Syndrome:

(show top 50) (show all 80)
# Title Authors Year
1
A Case of Antley-Bixler Syndrome With a Novel Likely Pathogenic Variant (c.529G>C) in the POR Gene. ( 28841001 )
2017
2
Instability of the Human Cytochrome P450 Reductase A287P Variant Is the Major Contributor to Its Antley-Bixler Syndrome-like Phenotype. ( 27496950 )
2016
3
Compound heterozygosity of a paternal submicroscopic deletion and a maternal missense mutation in POR gene: Antley-bixler syndrome phenotype in three sibling fetuses. ( 26969897 )
2016
4
Multidisciplinary Treatment of Antley-Bixler Syndrome. ( 26752126 )
2016
5
Biallelic mutations in CYP26B1: A differential diagnosis for Pfeiffer and Antley-Bixler syndromes. ( 27410456 )
2016
6
Prenatal Diagnosis of Antley-Bixler Syndrome and POR Deficiency. ( 26670660 )
2015
7
Gross Motor Function of a Child With Antley-Bixler Syndrome. ( 26397096 )
2015
8
Anesthetic risks associated with antley-bixler syndrome. ( 23348324 )
2013
9
Antley-Bixler Syndrome: Surgical Management of Ambiguous Genitalia - A Case Report. ( 24334858 )
2013
10
Conditional deletion of cytochrome p450 reductase in osteoprogenitor cells affects long bone and skull development in mice recapitulating antley-bixler syndrome: role of a redox enzyme in development. ( 24086598 )
2013
11
A case of antley-bixler syndrome. ( 24027687 )
2012
12
Altered human CYP3A4 activity caused by Antley-Bixler syndrome-related variants of NADPH-cytochrome P450 oxidoreductase measured in a robust in vitro system. ( 22252407 )
2012
13
46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene. ( 23295302 )
2012
14
Mouse knockout of the cholesterogenic cytochrome P450 lanosterol 14alpha-demethylase (Cyp51) resembles Antley-Bixler syndrome. ( 21705796 )
2011
15
A rare cause of congenital adrenal hyperplasia: Antley-Bixler syndrome due to POR deficiency. ( 21868813 )
2011
16
Antley-Bixler-syndrome--staged management of craniofacial malformations from birth to adolescence--a case report. ( 21146417 )
2011
17
Ambiguous genitalia, impaired steroidogenesis, and Antley-Bixler syndrome in a patient with P450 oxidoreductase deficiency. ( 20124576 )
2010
18
Spectrum of Antley-Bixler syndrome. ( 20818252 )
2010
19
Cytochrome P450 oxidoreductase deficiency with Antley-Bixler syndrome: steroidogenic capacities. ( 19618668 )
2009
20
A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene. ( 18853185 )
2009
21
Did Akhenaten have the Antley-Bixler syndrome? ( 20008767 )
2009
22
[Antley-Bixler syndrome or POR deficiency?]. ( 18630181 )
2008
23
Impairment of human CYP1A2-mediated xenobiotic metabolism by Antley-Bixler syndrome variants of cytochrome P450 oxidoreductase. ( 18455494 )
2008
24
Foot anomalies in Antley-Bixler syndrome: three case reports. ( 19471176 )
2008
25
Proximal femoral focal deficiency as a manifestation of Antley-Bixler syndrome: a case report. ( 17429125 )
2007
26
Otologic findings in Antley-Bixler syndrome: a clinical and radiologic case report. ( 17482285 )
2007
27
Anesthesia for an infant with Antley-Bixler syndrome. ( 17474961 )
2007
28
P450 oxidoreductase deficiency and Antley-Bixler syndrome. ( 17960482 )
2007
29
Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: a novel case of P450 oxidoreductase deficiency. ( 16906539 )
2006
30
Diminished FAD binding in the Y459H and V492E Antley-Bixler syndrome mutants of human cytochrome P450 reductase. ( 16998238 )
2006
31
POR R457H is a global founder mutation causing Antley-Bixler syndrome with autosomal recessive trait. ( 16470797 )
2006
32
Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients. ( 15483095 )
2005
33
Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. ( 15793702 )
2005
34
Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome. ( 15264278 )
2004
35
Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome. ( 15266606 )
2004
36
Correction of facial deformity using a Red III device in a patient with Antley-Bixler syndrome. ( 15547402 )
2004
37
Prenatal diagnosis of P450 oxidoreductase deficiency (ORD): a disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley-Bixler syndrome phenotype. ( 15316970 )
2004
38
Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis. ( 15216541 )
2004
39
Abnormal steroidogenesis in three patients with Antley-Bixler syndrome: apparent decreased activity of 17alpha-hydroxylase, 17,20-lyase and 21-hydroxylase. ( 15491389 )
2004
40
A case of Antley-Bixler syndrome with severe skeletal Cl. III malocclusion. ( 15536859 )
2004
41
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. ( 14758361 )
2004
42
Antley-Bixler syndrome with radioulnar synostosis. ( 14513299 )
2004
43
Antley-Bixler syndrome: correction of facial deformities and long-term survival. ( 12618604 )
2003
44
Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia. ( 12116245 )
2002
45
Antley-Bixler syndrome, description of two new cases and review of the literature. ( 11275784 )
2001
46
The Antley-Bixler syndrome: two new cases. ( 11832641 )
2001
47
Antley-Bixler syndrome and maternal virilization: a proposal of genetic heterogeneity. ( 11453978 )
2001
48
Antley-Bixler syndrome: report of a case. ( 11149533 )
2001
49
Further evidence that fibroblast growth factor receptor 2 mutations cause Antley-Bixler syndrome. ( 11430730 )
2001
50
Antley-Bixler syndrome associated with Arnold-Chiari malformation. ( 10914975 )
2000

Variations for Antley-Bixler Syndrome

Expression for Antley-Bixler Syndrome

Search GEO for disease gene expression data for Antley-Bixler Syndrome.

Pathways for Antley-Bixler Syndrome

Pathways related to Antley-Bixler Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.56 CYP17A1 CYP19A1 CYP21A2 CYP51A1 POR
2 11.29 FGFR1 FGFR2
3
Show member pathways
11.19 CYP17A1 CYP19A1
4 11.13 CYP17A1 CYP19A1
5 11.08 FGFR1 FGFR2
6
Show member pathways
11.08 CYP17A1 CYP19A1 CYP21A2
7 11.02 FGFR1 FGFR2
8 10.94 FGFR1 FGFR2
9
Show member pathways
10.61 CYP17A1 CYP19A1 CYP21A2
10
Show member pathways
10.6 CYP17A1 CYP21A2

GO Terms for Antley-Bixler Syndrome

Cellular components related to Antley-Bixler Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intracellular membrane-bounded organelle GO:0043231 9.46 CYP21A2 CYP51A1 FGFR2 POR
2 endoplasmic reticulum GO:0005783 9.35 CYP17A1 CYP19A1 CYP21A2 CYP51A1 POR
3 endoplasmic reticulum membrane GO:0005789 9.02 CYP17A1 CYP19A1 CYP21A2 CYP51A1 POR

Biological processes related to Antley-Bixler Syndrome according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.72 CYP17A1 CYP19A1 CYP21A2 CYP51A1 POR
2 steroid metabolic process GO:0008202 9.69 CYP17A1 CYP21A2 CYP51A1
3 inner ear morphogenesis GO:0042472 9.6 FGFR1 FGFR2
4 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.59 FGFR1 FGFR2
5 ureteric bud development GO:0001657 9.58 FGFR1 FGFR2
6 skeletal system morphogenesis GO:0048705 9.58 FGFR1 FGFR2
7 positive regulation of cell cycle GO:0045787 9.57 FGFR1 FGFR2
8 midbrain development GO:0030901 9.56 FGFR1 FGFR2
9 positive regulation of cardiac muscle cell proliferation GO:0060045 9.55 FGFR1 FGFR2
10 positive regulation of mesenchymal cell proliferation GO:0002053 9.54 FGFR1 FGFR2
11 branching involved in salivary gland morphogenesis GO:0060445 9.52 FGFR1 FGFR2
12 mesenchymal cell differentiation GO:0048762 9.49 FGFR1 FGFR2
13 positive regulation of phospholipase activity GO:0010518 9.48 FGFR1 FGFR2
14 lung-associated mesenchyme development GO:0060484 9.46 FGFR1 FGFR2
15 glucocorticoid biosynthetic process GO:0006704 9.43 CYP17A1 CYP21A2
16 demethylation GO:0070988 9.4 CYP51A1 POR
17 orbitofrontal cortex development GO:0021769 9.37 FGFR1 FGFR2
18 ventricular zone neuroblast division GO:0021847 9.26 FGFR1 FGFR2
19 steroid biosynthetic process GO:0006694 9.26 CYP17A1 CYP19A1 CYP21A2 CYP51A1
20 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 9.16 FGFR1 FGFR2
21 sterol metabolic process GO:0016125 8.92 CYP17A1 CYP19A1 CYP21A2 CYP51A1

Molecular functions related to Antley-Bixler Syndrome according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.65 CYP17A1 CYP19A1 CYP21A2 CYP51A1 POR
2 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.49 FGFR1 FGFR2
3 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.48 FGFR1 FGFR2
4 oxygen binding GO:0019825 9.46 CYP17A1 CYP19A1
5 iron ion binding GO:0005506 9.46 CYP17A1 CYP19A1 CYP21A2 CYP51A1
6 1-phosphatidylinositol-3-kinase activity GO:0016303 9.43 FGFR1 FGFR2
7 steroid hydroxylase activity GO:0008395 9.4 CYP19A1 CYP21A2
8 fibroblast growth factor binding GO:0017134 9.37 FGFR1 FGFR2
9 fibroblast growth factor-activated receptor activity GO:0005007 9.32 FGFR1 FGFR2
10 heme binding GO:0020037 9.26 CYP17A1 CYP19A1 CYP21A2 CYP51A1
11 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 8.92 CYP17A1 CYP19A1 CYP21A2 CYP51A1

Sources for Antley-Bixler Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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