OPTB2
MCID: OST129
MIFTS: 44

Osteopetrosis, Autosomal Recessive 2 (OPTB2)

Categories: Blood diseases, Bone diseases, Cancer diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Liver diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Osteopetrosis, Autosomal Recessive 2

MalaCards integrated aliases for Osteopetrosis, Autosomal Recessive 2:

Name: Osteopetrosis, Autosomal Recessive 2 57 73 13
Autosomal Recessive Osteopetrosis 2 12 29 6 15
Optb2 57 12 20 73
Osteopetrosis, Mild Autosomal Recessive Form 57 71
Osteoclast-Poor Osteopetrosis 12 73
Mild Autosomal Recessive Form Osteopetrosis 12
Osteopetrosis, Autosomal Recessive, Type 2 39
Autosomal Recessive Osteopetrosis Type 2 20
Osteopetrosis Autosomal Recessive 2 20
Osteopetrosis, Osteoclast-Poor 57
Osteopetrosis Osteoclast-Poor 20

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
also a mild dominant form and a lethal recessive form


HPO:

31
osteopetrosis, autosomal recessive 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Osteopetrosis, Autosomal Recessive 2

GARD : 20 Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density and abnormal bone growth. Symptoms and severity can vary greatly, ranging from neonatal onset with life-threatening complications (such as bone marrow failure) to the incidental finding of osteopetrosis on X-ray. Depending on severity and age of onset, features may include fractures, short stature, compressive neuropathies (pressure on the nerves), hypocalcemia with attendant tetanic seizures, and life-threatening pancytopenia. In rare cases, there may be neurological impairment or involvement of other body systems. Osteopetrosis may be caused by mutations in at least 10 genes. Inheritance can be autosomal recessive, autosomal dominant, or X-linked recessive with the most severe forms being autosomal recessive. Management depends on the specific symptoms and severity and may include vitamin D supplements, various medications, and/or surgery. Adult osteopetrosis requires no treatment by itself, but complications may require intervention.

MalaCards based summary : Osteopetrosis, Autosomal Recessive 2, also known as autosomal recessive osteopetrosis 2, is related to osteopetrosis, autosomal recessive 7 and bone resorption disease. An important gene associated with Osteopetrosis, Autosomal Recessive 2 is TNFSF11 (TNF Superfamily Member 11), and among its related pathways/superpathways are Ion channel transport and RANK Signaling in Osteoclasts. Affiliated tissues include bone and bone marrow, and related phenotypes are mandibular prognathia and carious teeth

Disease Ontology : 12 An osteopetrosis characterized by autosomal recessive inheritance that has material basis in homozygous mutation in the TNFSF11 gene on chromosome 13q14.

UniProtKB/Swiss-Prot : 73 Osteopetrosis, autosomal recessive 2: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB2 is characterized by paucity of osteoclasts, suggesting a molecular defect in osteoclast development.

More information from OMIM: 259710 PS259700

Related Diseases for Osteopetrosis, Autosomal Recessive 2

Diseases in the Osteopetrosis family:

Osteopetrosis, Autosomal Dominant 2 Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 2 Osteopetrosis, Autosomal Recessive 5
Osteopetrosis, Autosomal Recessive 3 Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Autosomal Recessive 4 Osteopetrosis, Autosomal Recessive 6
Osteopetrosis, Autosomal Recessive 7 Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Autosomal Dominant 3 Clcn7-Related Osteopetrosis
Autosomal Recessive Malignant Osteopetrosis

Diseases related to Osteopetrosis, Autosomal Recessive 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
# Related Disease Score Top Affiliating Genes
1 osteopetrosis, autosomal recessive 7 32.4 TNFSF11 TCIRG1 CLCN7
2 bone resorption disease 29.8 TNFSF11 NFATC1 CTSK ACP5
3 bone disease 29.0 TNFSF11 OSTM1 NFATC1 CTSK CLCN7 ACP5
4 osteopetrosis 28.8 TNFSF11 TCIRG1 PLEKHM1 OSTM1 NFATC1 CTSK
5 osteopetrosis, autosomal recessive 1 10.2 TCIRG1 CLCN7
6 hajdu-cheney syndrome 10.2 TNFSF11 NFATC1
7 west nile fever 10.1 DEFB105B DEFB105A
8 osteopetrosis, autosomal recessive 4 10.1 TNFSF11 TCIRG1 CLCN7
9 autosomal recessive malignant osteopetrosis 10.1 TNFSF11 TCIRG1 CLCN7
10 femoral cancer 10.1 TNFSF11 ACP5
11 congenital bile acid synthesis defect 10.1 DEFB105B DEFB105A
12 cherubism 10.1 TNFSF11 NFATC1
13 pigmented villonodular synovitis 10.1 TNFSF11 ACP5
14 immune deficiency disease 10.1
15 agammaglobulinemia 10.1
16 clcn7-related osteopetrosis 10.1
17 rapidly involuting congenital hemangioma 10.1
18 axial osteomalacia 10.0 TCIRG1 OSTM1 CLCN7
19 fibrogenesis imperfecta ossium 10.0 TCIRG1 OSTM1 CLCN7
20 glucocorticoid-induced osteoporosis 10.0 TNFSF11 ACP5
21 osteopetrosis, autosomal recessive 3 10.0 TCIRG1 OSTM1 CLCN7
22 craniodiaphyseal dysplasia 10.0 TCIRG1 PLEKHM1 CLCN7
23 root resorption 10.0 TNFSF11 CTSK
24 mammary paget's disease 10.0 TNFSF11 ACP5
25 benign giant cell tumor 10.0 TNFSF11 CTSK
26 osteoporosis, juvenile 10.0 TNFSF11 CTSK
27 osteonecrosis 9.9 TNFSF11 NFATC1 ACP5
28 parathyroid gland disease 9.9 TNFSF11 ACP5
29 osteopetrosis, autosomal recessive 5 9.9 TNFSF11 TCIRG1 OSTM1 CLCN7
30 craniometaphyseal dysplasia, autosomal dominant 9.9 TNFSF11 TCIRG1 OSTM1 CLCN7
31 osteopetrosis, autosomal recessive 6 9.9 TNFSF11 TCIRG1 PLEKHM1 CLCN7
32 osteopetrosis, autosomal dominant 2 9.8 TNFSF11 TCIRG1 CLCN7 ACP5
33 sclerosteosis 9.8 TNFSF11 CTSK
34 periapical periodontitis 9.8 TNFSF11 CTSK ACP5
35 periodontitis 9.8 TNFSF11 CTSK ACP5
36 tooth resorption 9.8 TNFSF11 CTSK ACP5
37 bone benign neoplasm 9.8 TNFSF11 CTSK ACP5
38 bone giant cell tumor 9.8 TNFSF11 CTSK ACP5
39 multicentric carpotarsal osteolysis syndrome 9.8 TNFSF11 CTSK ACP5
40 teeth hard tissue disease 9.8 TNFSF11 ACP5
41 brittle bone disorder 9.8 TNFSF11 CTSK ACP5
42 ischemic bone disease 9.6 TNFSF11 NFATC1 CTSK ACP5
43 osteomyelitis 9.6 TNFSF11 NFATC1 CTSK ACP5
44 odontochondrodysplasia 9.6 TNFSF11 CTSK CLCN7 ACP5
45 microphthalmia 9.6 TNFSF11 NFATC1 CTSK ACP5
46 bone remodeling disease 9.3 TNFSF11 TCIRG1 NFATC1 CTSK CLCN7 ACP5
47 osteoporosis 9.3 TNFSF11 TCIRG1 NFATC1 CTSK CLCN7 ACP5
48 endosteal hyperostosis, autosomal dominant 9.1 TNFSF11 TCIRG1 OSTM1 NFATC1 CTSK CLCN7
49 pycnodysostosis 9.0 TNFSF11 TCIRG1 PLEKHM1 OSTM1 CTSK CLCN7
50 osteopetrosis, autosomal recessive 8 8.9 TNFSF11 TCIRG1 PLEKHM1 OSTM1 NFATC1 CTSK

Graphical network of the top 20 diseases related to Osteopetrosis, Autosomal Recessive 2:



Diseases related to Osteopetrosis, Autosomal Recessive 2

Symptoms & Phenotypes for Osteopetrosis, Autosomal Recessive 2

Human phenotypes related to Osteopetrosis, Autosomal Recessive 2:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 mandibular prognathia 31 HP:0000303
2 carious teeth 31 HP:0000670
3 optic atrophy 31 HP:0000648
4 blindness 31 HP:0000618
5 anemia 31 HP:0001903
6 genu valgum 31 HP:0002857
7 thrombocytopenia 31 HP:0001873
8 recurrent fractures 31 HP:0002757
9 mandibular osteomyelitis 31 HP:0007626
10 osteopetrosis 31 HP:0011002
11 cranial hyperostosis 31 HP:0004437
12 pancytopenia 31 HP:0001876
13 hepatosplenomegaly 31 HP:0001433
14 persistence of primary teeth 31 HP:0006335
15 facial paralysis 31 HP:0007209
16 extramedullary hematopoiesis 31 HP:0001978
17 diaphyseal sclerosis 31 HP:0003034
18 chronic rhinitis due to narrow nasal airway 31 HP:0004499

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Eyes:
optic atrophy
early blindness

Skel:
genu valgum
osteosclerosis
multiple fractures
osteomyelitis, especially of the mandible

G I:
hepatosplenomegaly

Nose:
chronic rhinitis due to narrow nasal airway

Neuro:
normal intelligence
facial paralysis due to cranial nerve vii compression

Heme:
anemia
thrombocytopenia
pancytopenia
extramedullary hematopoiesis

Skull:
cranial hyperostosis

Limbs:
diaphyseal sclerosis

Mandible:
mandibular prognathism

Teeth:
dental anomalies
dental caries
deciduous teeth retention
tooth crown malformation

Clinical features from OMIM®:

259710 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Osteopetrosis, Autosomal Recessive 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.86 CLCN7 CTSK NFATC1 OSTM1 PLEKHM1 RGS10
2 craniofacial MP:0005382 9.8 CLCN7 CTSK NFATC1 OSTM1 TCIRG1 TNFSF11
3 immune system MP:0005387 9.76 CLCN7 CTSK NFATC1 OSTM1 PLEKHM1 RGS10
4 limbs/digits/tail MP:0005371 9.56 CLCN7 CTSK NFATC1 OSTM1 PLEKHM1 RGS10
5 skeleton MP:0005390 9.23 CLCN7 CTSK NFATC1 OSTM1 PLEKHM1 RGS10

Drugs & Therapeutics for Osteopetrosis, Autosomal Recessive 2

Search Clinical Trials , NIH Clinical Center for Osteopetrosis, Autosomal Recessive 2

Genetic Tests for Osteopetrosis, Autosomal Recessive 2

Genetic tests related to Osteopetrosis, Autosomal Recessive 2:

# Genetic test Affiliating Genes
1 Autosomal Recessive Osteopetrosis 2 29 TNFSF11

Anatomical Context for Osteopetrosis, Autosomal Recessive 2

MalaCards organs/tissues related to Osteopetrosis, Autosomal Recessive 2:

40
Bone, Bone Marrow

Publications for Osteopetrosis, Autosomal Recessive 2

Articles related to Osteopetrosis, Autosomal Recessive 2:

# Title Authors PMID Year
1
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. 6 57
17632511 2007
2
A mild autosomal recessive form of osteopetrosis. 57
6702897 1984
3
Osteopetrosis: further heterogeneity. 57
7420221 1980
4
Genetic disorders associated with the RANKL/OPG/RANK pathway. 61
32940787 2021

Variations for Osteopetrosis, Autosomal Recessive 2

ClinVar genetic disease variations for Osteopetrosis, Autosomal Recessive 2:

6 (show top 50) (show all 62)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TNFSF11 TNFSF11, 5-BP DEL, IVS7+4 Deletion Pathogenic 6973
2 TNFSF11 NM_003701.4(TNFSF11):c.596T>A (p.Met199Lys) SNV Pathogenic 6974 rs121909072 13:43180696-43180696 13:42606560-42606560
3 TNFSF11 NM_003701.4(TNFSF11):c.828_829del (p.Val277fs) Deletion Pathogenic 6975 rs863223288 13:43180928-43180929 13:42606792-42606793
4 TNFSF11 NM_003701.4(TNFSF11):c.534T>C (p.Gly178=) SNV Uncertain significance 312235 rs146484645 13:43180634-43180634 13:42606498-42606498
5 TNFSF11 NM_003701.4(TNFSF11):c.*152A>G SNV Uncertain significance 312241 rs886050254 13:43181206-43181206 13:42607070-42607070
6 TNFSF11 NM_003701.4(TNFSF11):c.*554A>G SNV Uncertain significance 312247 rs200749870 13:43181608-43181608 13:42607472-42607472
7 TNFSF11 NM_003701.4(TNFSF11):c.-64C>G SNV Uncertain significance 312225 rs886050251 13:43148376-43148376 13:42574240-42574240
8 TNFSF11 NM_003701.4(TNFSF11):c.98C>A (p.Pro33Gln) SNV Uncertain significance 312228 rs200250962 13:43148537-43148537 13:42574401-42574401
9 TNFSF11 NM_003701.4(TNFSF11):c.403G>A (p.Val135Ile) SNV Uncertain significance 312233 rs201389502 13:43174903-43174903 13:42600767-42600767
10 TNFSF11 NM_003701.4(TNFSF11):c.*159G>A SNV Uncertain significance 312242 rs186999111 13:43181213-43181213 13:42607077-42607077
11 TNFSF11 NM_003701.4(TNFSF11):c.-144G>C SNV Uncertain significance 312220 rs201859220 13:43148296-43148296 13:42574160-42574160
12 TNFSF11 NM_003701.4(TNFSF11):c.911A>G (p.Asp304Gly) SNV Uncertain significance 312236 rs760748407 13:43181011-43181011 13:42606875-42606875
13 TNFSF11 NM_003701.4(TNFSF11):c.-81C>A SNV Uncertain significance 312223 rs200647526 13:43148359-43148359 13:42574223-42574223
14 TNFSF11 NM_003701.4(TNFSF11):c.*94T>G SNV Uncertain significance 312239 rs886050252 13:43181148-43181148 13:42607012-42607012
15 TNFSF11 NM_003701.4(TNFSF11):c.-4C>T SNV Uncertain significance 312226 rs781185506 13:43148436-43148436 13:42574300-42574300
16 TNFSF11 NM_003701.4(TNFSF11):c.148G>A (p.Val50Met) SNV Uncertain significance 312230 rs779371056 13:43148587-43148587 13:42574451-42574451
17 TNFSF11 NM_003701.4(TNFSF11):c.*357C>T SNV Uncertain significance 312245 rs192340175 13:43181411-43181411 13:42607275-42607275
18 TNFSF11 NM_003701.4(TNFSF11):c.254A>T (p.His85Leu) SNV Uncertain significance 312232 rs199910582 13:43155296-43155296 13:42581160-42581160
19 TNFSF11 NM_003701.4(TNFSF11):c.-74C>T SNV Uncertain significance 312224 rs569615616 13:43148366-43148366 13:42574230-42574230
20 TNFSF11 NM_003701.4(TNFSF11):c.*113G>A SNV Uncertain significance 312240 rs886050253 13:43181167-43181167 13:42607031-42607031
21 TNFSF11 NM_003701.4(TNFSF11):c.424G>A (p.Ala142Thr) SNV Uncertain significance 312234 rs199529587 13:43174924-43174924 13:42600788-42600788
22 TNFSF11 NM_003701.4(TNFSF11):c.-104C>T SNV Uncertain significance 880855 13:43148336-43148336 13:42574200-42574200
23 TNFSF11 NM_003701.4(TNFSF11):c.-94C>T SNV Uncertain significance 880856 13:43148346-43148346 13:42574210-42574210
24 TNFSF11 NM_003701.4(TNFSF11):c.-7G>C SNV Uncertain significance 880857 13:43148433-43148433 13:42574297-42574297
25 TNFSF11 NM_003701.4(TNFSF11):c.851G>A (p.Arg284Gln) SNV Uncertain significance 498497 rs61761332 13:43180951-43180951 13:42606815-42606815
26 TNFSF11 NM_003701.4(TNFSF11):c.*119C>T SNV Uncertain significance 880912 13:43181173-43181173 13:42607037-42607037
27 TNFSF11 NM_003701.4(TNFSF11):c.420C>G (p.Ile140Met) SNV Uncertain significance 882482 13:43174920-43174920 13:42600784-42600784
28 TNFSF11 NM_003701.4(TNFSF11):c.*667A>G SNV Uncertain significance 882546 13:43181721-43181721 13:42607585-42607585
29 TNFSF11 NM_003701.4(TNFSF11):c.*754A>C SNV Uncertain significance 882547 13:43181808-43181808 13:42607672-42607672
30 TNFSF11 NM_003701.4(TNFSF11):c.*788T>C SNV Uncertain significance 882548 13:43181842-43181842 13:42607706-42607706
31 TNFSF11 NM_003701.4(TNFSF11):c.-147C>T SNV Uncertain significance 884144 13:43148293-43148293 13:42574157-42574157
32 TNFSF11 NM_003701.4(TNFSF11):c.433+13C>G SNV Uncertain significance 884196 13:43174946-43174946 13:42600810-42600810
33 TNFSF11 NM_003701.4(TNFSF11):c.435G>A (p.Ala145=) SNV Uncertain significance 884197 13:43175020-43175020 13:42600884-42600884
34 TNFSF11 NM_003701.4(TNFSF11):c.520G>A (p.Asp174Asn) SNV Uncertain significance 884198 13:43175105-43175105 13:42600969-42600969
35 TNFSF11 NM_003701.4(TNFSF11):c.533-8C>T SNV Uncertain significance 884199 13:43180625-43180625 13:42606489-42606489
36 TNFSF11 NM_003701.4(TNFSF11):c.618A>G (p.Leu206=) SNV Uncertain significance 884200 13:43180718-43180718 13:42606582-42606582
37 TNFSF11 NM_003701.4(TNFSF11):c.845A>C (p.Lys282Thr) SNV Uncertain significance 884201 13:43180945-43180945 13:42606809-42606809
38 TNFSF11 NM_003701.4(TNFSF11):c.849A>G (p.Leu283=) SNV Uncertain significance 884202 13:43180949-43180949 13:42606813-42606813
39 TNFSF11 NM_003701.4(TNFSF11):c.83G>A (p.Gly28Asp) SNV Uncertain significance 501658 rs201652399 13:43148522-43148522 13:42574386-42574386
40 TNFSF11 NM_003701.4(TNFSF11):c.*158C>T SNV Uncertain significance 882279 13:43181212-43181212 13:42607076-42607076
41 TNFSF11 NM_003701.4(TNFSF11):c.*221G>C SNV Uncertain significance 882280 13:43181275-43181275 13:42607139-42607139
42 TNFSF11 NM_003701.4(TNFSF11):c.*242A>G SNV Uncertain significance 882281 13:43181296-43181296 13:42607160-42607160
43 TNFSF11 NM_003701.4(TNFSF11):c.*261G>A SNV Uncertain significance 882282 13:43181315-43181315 13:42607179-42607179
44 TNFSF11 NM_003701.4(TNFSF11):c.*745T>C SNV Likely benign 312250 rs12721444 13:43181799-43181799 13:42607663-42607663
45 TNFSF11 NM_003701.4(TNFSF11):c.214G>A (p.Ala72Thr) SNV Likely benign 193255 rs142756983 13:43148653-43148653 13:42574517-42574517
46 TNFSF11 NM_003701.4(TNFSF11):c.45G>A (p.Ser15=) SNV Likely benign 312227 rs200121871 13:43148484-43148484 13:42574348-42574348
47 TNFSF11 NM_003701.4(TNFSF11):c.-141C>T SNV Likely benign 312221 rs45468495 13:43148299-43148299 13:42574163-42574163
48 TNFSF11 NM_003701.4(TNFSF11):c.107C>G (p.Pro36Arg) SNV Likely benign 312229 rs138818878 13:43148546-43148546 13:42574410-42574410
49 TNFSF11 NM_003701.4(TNFSF11):c.*704G>A SNV Benign 312248 rs34886516 13:43181758-43181758 13:42607622-42607622
50 TNFSF11 NM_003701.4(TNFSF11):c.239C>T (p.Ser80Leu) SNV Benign 312231 rs138974661 13:43155281-43155281 13:42581145-42581145

UniProtKB/Swiss-Prot genetic disease variations for Osteopetrosis, Autosomal Recessive 2:

73
# Symbol AA change Variation ID SNP ID
1 TNFSF11 p.Met199Lys VAR_037424 rs121909072

Expression for Osteopetrosis, Autosomal Recessive 2

Search GEO for disease gene expression data for Osteopetrosis, Autosomal Recessive 2.

Pathways for Osteopetrosis, Autosomal Recessive 2

Pathways related to Osteopetrosis, Autosomal Recessive 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.04 TCIRG1 OSTM1 CLCN7
2
Show member pathways
11.96 TNFSF11 NFATC1 CTSK ACP5
3 11.6 TCIRG1 CTSK ACP5
4 11.56 TNFSF11 NFATC1 CTSK ACP5
5 11.23 TNFSF11 TCIRG1 CTSK ACP5
6 10 TNFSF11 CTSK ACP5

GO Terms for Osteopetrosis, Autosomal Recessive 2

Cellular components related to Osteopetrosis, Autosomal Recessive 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosomal membrane GO:0005765 9.26 TCIRG1 PLEKHM1 OSTM1 CLCN7
2 lysosome GO:0005764 9.1 TCIRG1 PLEKHM1 OSTM1 CTSK CLCN7 ACP5

Biological processes related to Osteopetrosis, Autosomal Recessive 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.58 TCIRG1 OSTM1 CLCN7
2 ossification GO:0001503 9.5 TNFSF11 TCIRG1 ACP5
3 positive regulation of bone resorption GO:0045780 9.37 TNFSF11 PLEKHM1
4 tooth eruption GO:0044691 9.26 TNFSF11 TCIRG1
5 osteoclast proliferation GO:0002158 9.16 TNFSF11 TCIRG1
6 osteoclast differentiation GO:0030316 9.13 TNFSF11 TCIRG1 OSTM1
7 bone resorption GO:0045453 8.92 TNFSF11 TCIRG1 CTSK ACP5

Sources for Osteopetrosis, Autosomal Recessive 2

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