MCID: MLT145
MIFTS: 49

Multiple Enchondromatosis, Maffucci Type

Categories: Bone diseases, Cardiovascular diseases, Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Multiple Enchondromatosis, Maffucci Type

MalaCards integrated aliases for Multiple Enchondromatosis, Maffucci Type:

Name: Multiple Enchondromatosis, Maffucci Type 57
Maffucci Syndrome 57 12 73 20 43 58 29 15 70
Multiple Angiomas and Endochondromas 20 43
Enchondromatosis with Hemangiomata 20 43
Hemangiomatosis Chondrodystrophica 20 43
Chondrodysplasia with Hemangioma 20 43
Chondroplasia Angiomatosis 20 43
Kast Syndrome 20 43
Enchondromatosis with Multiple Cavernous Hemangiomas 20
Dyschondroplasia and Cavernous Hemangioma 43
Dyschondrodysplasia with Hemangiomas 20
Hemangiomata with Dyschondroplasia 43
Enchondromatosis Type Ii 20

Characteristics:

Orphanet epidemiological data:

58
maffucci syndrome
Inheritance: Not applicable; Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Multiple Enchondromatosis, Maffucci Type

MedlinePlus Genetics : 43 Maffucci syndrome is a disorder that primarily affects the bones and skin. It is characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths most commonly occur in the limb bones, especially in the bones of the hands and feet; however, they may also occur in the skull, ribs, and bones of the spine (vertebrae). Enchondromas may result in severe bone deformities, shortening of the limbs, and fractures.The signs and symptoms of Maffucci syndrome may be detectable at birth, although they generally do not become apparent until around the age of 5. Enchondromas develop near the ends of bones, where normal growth occurs, and they frequently stop forming after affected individuals stop growing in early adulthood. As a result of the bone deformities associated with Maffucci syndrome, people with this disorder generally have short stature and underdeveloped muscles.Maffucci syndrome is distinguished from a similar disorder that involves enchondromas (Ollier disease) by the presence of red or purplish growths in the skin consisting of tangles of abnormal blood vessels (hemangiomas). In addition to hemangiomas, individuals with Maffucci syndrome occasionally also have lymphangiomas, which are masses made up of the thin tubes that carry lymph fluid (lymphatic vessels). These growths may appear anywhere on the body.Although the enchondromas associated with Maffucci syndrome start out as benign, they may become cancerous (malignant). In particular, affected individuals may develop bone cancers called chondrosarcomas, especially in the skull. People with Maffucci syndrome also have an increased risk of other cancers, such as ovarian or liver cancer.People with Maffucci syndrome usually have a normal lifespan, and intelligence is unaffected. The extent of their physical impairment depends on their individual skeletal deformities, but in most cases they have no major limitations in their activities.

MalaCards based summary : Multiple Enchondromatosis, Maffucci Type, also known as maffucci syndrome, is related to enchondroma and chondrosarcoma. An important gene associated with Multiple Enchondromatosis, Maffucci Type is IDH1 (Isocitrate Dehydrogenase (NADP(+)) 1), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Presynaptic function of Kainate receptors. Affiliated tissues include bone, pituitary and cortex, and related phenotypes are venous thrombosis and multiple enchondromatosis

Disease Ontology : 12 A syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas.

GARD : 20 Maffucci syndrome is a disorder that primarily affects the bones and skin. It is characterized by multiple enchondromas (benign enlargements of cartilage), bone deformities, and hemangiomas (tangles of abnormal of blood vessels). The abnormal growths associated with Maffucci syndrome may become cancerous (malignant). In particular, affected individuals may develop bone cancers called chondrosarcomas, especially in the skull. They also have an increased risk of other cancers, such as ovarian or liver cancer. The underlying cause of Maffucci syndrome is unknown. No specific genes related to this disorder have been identified. Researchers suggest that the condition may be associated with abnormalities occurring before birth in the development of two embryonic cell layers called the ectoderm and the mesoderm.

OMIM® : 57 Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis. When hemangiomata are associated, the condition is known as Maffucci syndrome. Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma (Schwartz et al., 1987). (614569) (Updated 05-Apr-2021)

Wikipedia : 73 Maffucci syndrome is a very rare disorder in which multiple benign tumors of cartilage develop within... more...

Related Diseases for Multiple Enchondromatosis, Maffucci Type

Diseases related to Multiple Enchondromatosis, Maffucci Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 132)
# Related Disease Score Top Affiliating Genes
1 enchondroma 31.2 IDH2 IDH1
2 chondrosarcoma 31.0 PTHLH IDH2 IDH1 EXT2 EXT1
3 exostosis 30.2 IHH EXT2 EXT1
4 malignant astrocytoma 30.2 KDM4C IDH2 IDH1 ATRX
5 intracranial chondrosarcoma 30.2 IDH3G IDH2 IDH1
6 diffuse astrocytoma 30.1 KDM4C IDH2 IDH1 ATRX
7 enchondromatosis, multiple, ollier type 30.0 TET2 PTHLH PTH1R KDM4C IHH IDH2
8 anaplastic astrocytoma 30.0 KDM4C IDH2 IDH1 ATRX
9 glioma susceptibility 1 30.0 IDH2 IDH1 CCDC26
10 metachondromatosis 29.9 PTHLH PTH1R IHH EXT2 EXT1
11 hemangioma 10.7
12 dysplasia epiphysealis hemimelica 10.4 EXT2 EXT1
13 adult brain stem glioma 10.4 IDH2 IDH1
14 cytogenetically normal acute myeloid leukemia 10.4 IDH2 IDH1
15 hereditary multiple osteochondromas 10.4 EXT2 EXT1
16 chondroma 10.4
17 adult oligodendroglioma 10.4 IDH2 IDH1
18 ankylosing spondylitis 3 10.3 EXT2 EXT1
19 spindle cell hemangioma 10.3
20 periosteal chondrosarcoma 10.3 IDH2 IDH1 EXT1
21 brain stem glioma 10.3 KDM4C IDH2 IDH1
22 periosteal osteogenic sarcoma 10.3 GNAS EXT2
23 eiken syndrome 10.3 PTHLH PTH1R
24 temporal lobe neoplasm 10.3 IDH1 ATRX
25 pituitary adenoma 10.3
26 hypercalcemia, infantile, 1 10.3 PTHLH PTH1R
27 frontal convexity meningioma 10.3 IDH1 GNAS AGGF1
28 osteochondroma 10.3 PTHLH EXT2 EXT1
29 low grade glioma 10.3 IDH2 IDH1
30 hereditary multiple exostoses 10.3 IHH EXT2 EXT1
31 bile duct adenocarcinoma 10.3 KDM4C IDH2 IDH1
32 spinal cord oligodendroglioma 10.3 IDH1 ATRX
33 metaphyseal chondrodysplasia, jansen type 10.3 PTHLH PTH1R IHH
34 parathyroid gland disease 10.3 PTHLH PTH1R KDM4C
35 childhood oligodendroglioma 10.2 IDH2 IDH1 ATRX
36 adult astrocytic tumour 10.2 IDH2 IDH1 ATRX
37 mixed oligodendroglioma-astrocytoma 10.2 IDH2 IDH1 ATRX
38 mixed glioma 10.2 IDH2 IDH1 ATRX
39 clear cell chondrosarcoma 10.2 PTHLH IDH2
40 infratentorial cancer 10.2 KDM4C IHH IDH1
41 adenoma 10.2
42 pseudohypoparathyroidism, type ia 10.2 PTHLH PTH1R GNAS
43 pseudohypoparathyroidism 10.2 PTHLH PTH1R GNAS
44 hypoparathyroidism 10.2 PTHLH PTH1R GNAS
45 brachydactyly, type a1 10.2 PTHLH PTH1R IHH
46 acrodysostosis 10.2 PTHLH PTH1R GNAS
47 childhood brain stem glioma 10.2 IDH1 ATRX
48 central nervous system benign neoplasm 10.2 KDM4C IDH1 ATRX
49 childhood acute myeloid leukemia 10.2 TET2 IDH2 IDH1
50 pseudohypoparathyroidism, type ib 10.2 PTHLH PTH1R GNAS

Graphical network of the top 20 diseases related to Multiple Enchondromatosis, Maffucci Type:



Diseases related to Multiple Enchondromatosis, Maffucci Type

Symptoms & Phenotypes for Multiple Enchondromatosis, Maffucci Type

Human phenotypes related to Multiple Enchondromatosis, Maffucci Type:

58 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 venous thrombosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004936
2 multiple enchondromatosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0005701
3 osteolysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002797
4 hemangiomatosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0007461
5 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
6 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
7 subcutaneous nodule 58 31 frequent (33%) Frequent (79-30%) HP:0001482
8 bone pain 58 31 frequent (33%) Frequent (79-30%) HP:0002653
9 exostoses 58 31 frequent (33%) Frequent (79-30%) HP:0100777
10 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
11 cranial nerve paralysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0006824
12 recurrent fractures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002757
13 astrocytoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0009592
14 cerebral palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0100021
15 breast carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0003002
16 goiter 58 31 occasional (7.5%) Occasional (29-5%) HP:0000853
17 ovarian neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0100615
18 neoplasm of the adrenal cortex 58 31 occasional (7.5%) Occasional (29-5%) HP:0100641
19 chondrosarcoma 58 31 very rare (1%) Occasional (29-5%) HP:0006765
20 parathyroid adenoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002897
21 pituitary adenoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002893
22 growth delay 58 Occasional (29-5%)
23 sarcoma 58 Occasional (29-5%)
24 hemangioma 31 HP:0001028
25 pathologic fracture 31 HP:0002756
26 neoplasm of the parathyroid gland 58 Occasional (29-5%)

Clinical features from OMIM®:

614569 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Multiple Enchondromatosis, Maffucci Type:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.1 AGGF1 ATRX CEP57 EXT1 EXT2 FH
2 limbs/digits/tail MP:0005371 9.92 CEP57 EXT1 GNAS GPR108 IDH2 IHH
3 neoplasm MP:0002006 9.81 AGGF1 CEP57 EXT1 GNAS IDH2 KDM4C
4 respiratory system MP:0005388 9.5 AGGF1 CEP57 GNAS IDH1 IHH PTH1R
5 skeleton MP:0005390 9.36 CEP57 EXT1 EXT2 GNAS GPR108 IDH1

Drugs & Therapeutics for Multiple Enchondromatosis, Maffucci Type

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Registry of Ollier Disease and Maffucci Syndrome That Collects Clinical, Functional, Genetic, Genealogical, Imaging, Surgical, Quality of Life Data. Data Are Linked to Patients Biological Sample Enrolling by invitation NCT04134572

Search NIH Clinical Center for Multiple Enchondromatosis, Maffucci Type

Genetic Tests for Multiple Enchondromatosis, Maffucci Type

Genetic tests related to Multiple Enchondromatosis, Maffucci Type:

# Genetic test Affiliating Genes
1 Maffucci Syndrome 29

Anatomical Context for Multiple Enchondromatosis, Maffucci Type

MalaCards organs/tissues related to Multiple Enchondromatosis, Maffucci Type:

40
Bone, Pituitary, Cortex, Adrenal Cortex, Breast, Spleen, Skin

Publications for Multiple Enchondromatosis, Maffucci Type

Articles related to Multiple Enchondromatosis, Maffucci Type:

(show top 50) (show all 167)
# Title Authors PMID Year
1
Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. 61 57
22057234 2011
2
Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. 57 61
22057236 2011
3
Enchondromatosis: insights on the different subtypes. 57 61
20661403 2010
4
PTHR1 mutations associated with Ollier disease result in receptor loss of function. 61 57
18559376 2008
5
Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C. 57 61
15523647 2004
6
The malignant potential of enchondromatosis. 61 57
3805090 1987
7
Maffucci's syndrome: amesenchymal dysplasia and multiple tumour syndrome. 61 57
869989 1977
8
A mutant PTH/PTHrP type I receptor in enchondromatosis. 57
11850620 2002
9
Maffucci's syndrome with oral and intestinal haemangioma. 57
10354047 1999
10
Maffucci's syndrome: two case reports with a literature review. 57
8408836 1993
11
Generalized enchondromatosis in a boy with only platyspondyly in the father. 57
2063903 1991
12
Chondrosarcoma in Maffucci's syndrome. 57
4055846 1985
13
Two peculiar types of enchondromatosis. 57
733398 1978
14
Dyschondroplasia and hemangiomas. (Maffucci's syndrome). Presentation of one case. 57
5678140 1968
15
Maffucci's syndrome. Report of a case with a review of the literature. 57
4955224 1965
16
MAFFUCCI'S SYNDROME; REPORT OF FOUR CASES. 57
14072322 1963
17
Cancer surveillance in children with Ollier Disease and Maffucci Syndrome. 61
33433055 2021
18
Monomelic Maffucci syndrome. 61
33658216 2021
19
CT angiography and MRI of hand vascular lesions: technical considerations and spectrum of imaging findings. 61
33576888 2021
20
Gene of the month: IDH1. 61
32727816 2020
21
Malignant Transformation of Maffucci Syndrome. 61
32530866 2020
22
Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature. 61
32144835 2020
23
Differential Diagnosis of Cartilaginous Lesions of Bone. 61
31877083 2020
24
Skull Base Enchondroma and Chondrosarcoma in Ollier Disease and Maffucci Syndrome. 61
31233929 2019
25
Maffucci Syndrome with Clival Enchondroma in Nasopharynx: A Case Report. 61
31742037 2019
26
[Synchronous primary double: condrosarcoma and sarcoma high grade fusocelular associated with Maffucci syndrome]. 61
32253856 2019
27
Juvenile granulosa cell tumor associated with Maffucci syndrome in pregnancy: A case report. 61
30965205 2019
28
Unsatisfactory response to sirolimus in Maffucci syndrome-associated spindle cell hemangiomas. 61
30724000 2019
29
Successful treatment of spindle cell hemangiomas in a patient with Maffucci syndrome and review of literatures. 61
30977938 2019
30
Maffucci syndrome and anaesthesia: Case report. 61
31142885 2019
31
Synovial sarcoma complicating Maffucci syndrome. 61
29667613 2019
32
[Chondromucinous tumors involving craniocerebral slope area: a clinicopathological analysis of eight cases]. 61
30831645 2019
33
Genetic Causes of Rare Pediatric Ovarian Tumors. 61
31409083 2019
34
Somatic Mosaicism of IDH1 R132H Predisposes to Anaplastic Astrocytoma: A Case of Two Siblings. 61
32010615 2019
35
Maffucci syndrome complicated by three different central nervous system tumors sharing an IDH1 R132C mutation: case report. 61
30579273 2018
36
Multiple Enchondromas of the Hand in Children: Long-Term Follow-Up of Mean 15.4 Years. 61
27603196 2018
37
Molecular profiling of different glioma specimens from an Ollier disease patient suggests a multifocal disease process in the setting of IDH mosaicism. 61
30159860 2018
38
The role of metabolic enzymes in mesenchymal tumors and tumor syndromes: genetics, pathology, and molecular mechanisms. 61
29339836 2018
39
Constitutional abnormalities of IDH1 combined with secondary mutations predispose a patient with Maffucci syndrome to acute lymphoblastic leukemia. 61
28544751 2017
40
Mutational analysis using Sanger and next generation sequencing in sporadic spindle cell hemangiomas: A study of 19 cases. 61
28845532 2017
41
Sclerosing angiomatoid nodular transformation of the spleen in a patient with Maffucci syndrome: a case report and review of literature. 61
29126417 2017
42
Maffucci syndrome with multiple hand calcifications. 61
28011156 2017
43
Esophageal hemangiomatosis with chest CT revealing a fine, curvilinear, calcified thrombus within the esophagus simulating acute esophageal fishbone impaction: first reported endoscopic photograph of GI manifestations in Maffucci syndrome. 61
27720888 2017
44
The association of enchondromatosis with malignant transformed chondrosarcoma and ovarian juvenile granulosa cell tumor (Ollier disease). 61
28420520 2017
45
Genetics and genomics of ovarian sex cord-stromal tumors. 61
27813081 2017
46
Maffucci Syndrome Associated With Adrenocorticotropic Hormone-Independent Bilateral Macronodular Adrenal Hyperplasia. 61
29264445 2017
47
Genetic basis for vascular anomalies. 61
27607321 2016
48
Multiple enchondromas and skin angiomas: Maffucci syndrome. 61
27037214 2016
49
Somatic IDH1 mutation in a pituitary adenoma of a patient with Maffucci syndrome. 61
26473790 2016
50
Gynecologic Manifestations of Less Commonly Encountered Hereditary Syndromes. 61
27241108 2016

Variations for Multiple Enchondromatosis, Maffucci Type

Expression for Multiple Enchondromatosis, Maffucci Type

Search GEO for disease gene expression data for Multiple Enchondromatosis, Maffucci Type.

Pathways for Multiple Enchondromatosis, Maffucci Type

Pathways related to Multiple Enchondromatosis, Maffucci Type according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.11 L2HGDH IDH3G IDH3B IDH2 GNAS FH
2
Show member pathways
12.1 PTHLH PTH1R IHH GNAS
3
Show member pathways
12.05 IDH3G IDH3B IDH2 IDH1 FH
4 11.66 PTHLH PTH1R GNAS
5
Show member pathways
11.37 IDH3G IDH3B IDH2 IDH1 FH
6 11.36 PTHLH PTH1R IHH
7
Show member pathways
11.22 L2HGDH IDH3G IDH3B IDH2 FH D2HGDH
8 11.05 PTHLH PTH1R IHH GNAS
9
Show member pathways
10.55 TET2 IDH2 IDH1

GO Terms for Multiple Enchondromatosis, Maffucci Type

Cellular components related to Multiple Enchondromatosis, Maffucci Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.5 L2HGDH IDH3G IDH3B IDH2 IDH1 FH
2 mitochondrial matrix GO:0005759 9.02 IDH3G IDH3B IDH2 FH D2HGDH

Biological processes related to Multiple Enchondromatosis, Maffucci Type according to GeneCards Suite gene sharing:

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.86 TET2 L2HGDH KDM4C IDH3G IDH3B IDH2
2 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.79 PTHLH PTH1R GNAS
3 skeletal system development GO:0001501 9.72 PTHLH PTH1R IHH GNAS EXT1
4 multicellular organism growth GO:0035264 9.71 IHH GNAS ATRX
5 ossification GO:0001503 9.71 PTH1R IHH EXT2 EXT1
6 sulfation GO:0051923 9.61 EXT2 EXT1
7 osteoblast development GO:0002076 9.6 PTHLH PTH1R
8 sodium ion homeostasis GO:0055078 9.59 EXT2 EXT1
9 heart contraction GO:0060047 9.58 EXT2 EXT1
10 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.58 EXT2 EXT1
11 chondrocyte proliferation GO:0035988 9.57 IHH EXT1
12 heparin biosynthetic process GO:0030210 9.56 EXT2 EXT1
13 multicellular organismal water homeostasis GO:0050891 9.55 EXT2 EXT1
14 tricarboxylic acid cycle GO:0006099 9.55 IDH3G IDH3B IDH2 IDH1 FH
15 NADP metabolic process GO:0006739 9.52 IDH2 IDH1
16 heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process GO:0015014 9.51 EXT2 EXT1
17 embryonic skeletal joint development GO:0072498 9.49 IHH EXT1
18 endochondral bone morphogenesis GO:0060350 9.48 EXT2 EXT1
19 fluid transport GO:0042044 9.46 EXT2 EXT1
20 cellular polysaccharide biosynthetic process GO:0033692 9.43 EXT2 EXT1
21 glyoxylate cycle GO:0006097 9.37 IDH2 IDH1
22 isocitrate metabolic process GO:0006102 9.26 IDH3G IDH3B IDH2 IDH1
23 2-oxoglutarate metabolic process GO:0006103 9.02 L2HGDH IDH3B IDH2 IDH1 D2HGDH

Molecular functions related to Multiple Enchondromatosis, Maffucci Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.93 TET2 L2HGDH KDM4C IDH2 IDH1 D2HGDH
2 magnesium ion binding GO:0000287 9.78 IDH3G IDH3B IDH2 IDH1
3 glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity GO:0050508 9.43 EXT2 EXT1
4 isocitrate dehydrogenase (NAD+) activity GO:0004449 9.4 IDH3G IDH3B
5 N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity GO:0050509 9.37 EXT2 EXT1
6 heparan sulfate N-acetylglucosaminyltransferase activity GO:0042328 9.32 EXT2 EXT1
7 isocitrate dehydrogenase (NADP+) activity GO:0004450 9.26 IDH2 IDH1
8 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor GO:0016616 9.26 IDH3G IDH3B IDH2 IDH1
9 isocitrate dehydrogenase activity GO:0004448 9.16 IDH2 IDH1
10 NAD binding GO:0051287 8.92 IDH3G IDH3B IDH2 IDH1

Sources for Multiple Enchondromatosis, Maffucci Type

3 CDC
7 CNVD
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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
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71 UMLS via Orphanet
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