PRIMS
MCID: PRM056
MIFTS: 39

Primrose Syndrome (PRIMS)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Primrose Syndrome

MalaCards integrated aliases for Primrose Syndrome:

Name: Primrose Syndrome 57 20 58 72 36 70
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome 20 58 29 6
Ossified Ear Cartilages with Mental Deficiency, Muscle Wasting, and Bony Changes 57 20 72
Prims 57 72
Syndrome, Primrose 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
some features are variably present


HPO:

31
primrose syndrome:
Inheritance autosomal dominant inheritance sporadic


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


Summaries for Primrose Syndrome

GARD : 20 Primrose syndrome was originally described in 1982 and fewer than a dozen cases have been reported in the literature. The most distinctive clinical feature is a calcification (hardening) of the outer ear. Other findings include characteristic facial features, a large head (macrocephaly), and intellectual disability. A variety of neurological signs such as brain calcifications, autism, and behavioral abnormalities have been reported in some cases. Additional features such as diabetes, sparse body hair, and muscle wasting become apparent in adulthood. Research has found that some cases of Primrose syndrome are caused by a mutation in the ZBTB20 gene. Most cases have been sporadic.

MalaCards based summary : Primrose Syndrome, also known as intellectual disability-cataracts-calcified pinnae-myopathy syndrome, is related to chromosome 3q13.31 deletion syndrome and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Primrose Syndrome is ZBTB20 (Zinc Finger And BTB Domain Containing 20). The drugs Liver Extracts and Anti-Retroviral Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and liver, and related phenotypes are intellectual disability and scoliosis

OMIM® : 57 Primrose syndrome consists of recognizable facial features, macrocephaly, mental retardation, enlarged and calcified external ears, sparse body hair, and distal muscle wasting (summary by Carvalho and Speck-Martins, 2011). Patients with a deletion syndrome involving 3q13.31 (615433) exhibit features overlapping those of Primrose syndrome. (259050) (Updated 05-Apr-2021)

KEGG : 36 Primrose syndrome (PRIMS) is a rare genetic disorder, characterized by dysmorphic facial features, macrocephaly, and intellectual disability, as well as large body size, height and weight, and calcified pinnae. Recently, mutations in ZBTB20, coding for a zing finger protein, have been identified in PRIMS patients.

UniProtKB/Swiss-Prot : 72 Primrose syndrome: A disease characterized by macrocephaly, intellectual disability, disturbed behavior, dysmorphic facial features, ectopic calcifications, large calcified ear auricles, and progressive muscle wasting.

Wikipedia : 73 Primrose syndrome is a rare, slowly progressive genetic disorder that can vary symptomatically between... more...

Related Diseases for Primrose Syndrome

Graphical network of the top 20 diseases related to Primrose Syndrome:



Diseases related to Primrose Syndrome

Symptoms & Phenotypes for Primrose Syndrome

Human phenotypes related to Primrose Syndrome:

58 31 (show top 50) (show all 73)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
3 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
4 kyphosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002808
5 hydrocephalus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000238
6 developmental regression 58 31 hallmark (90%) Very frequent (99-80%) HP:0002376
7 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
8 macrotia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000400
9 myopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003198
10 anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001903
11 conductive hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000405
12 hip contracture 58 31 hallmark (90%) Very frequent (99-80%) HP:0003273
13 bone cyst 58 31 hallmark (90%) Very frequent (99-80%) HP:0012062
14 abnormal palate morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0000174
15 osteolysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002797
16 hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000135
17 irregular vertebral endplates 58 31 hallmark (90%) Very frequent (99-80%) HP:0003301
18 calcification of the auricular cartilage 58 31 hallmark (90%) Very frequent (99-80%) HP:0005103
19 posterior scalloping of vertebral bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0005121
20 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
21 pectus excavatum 58 31 frequent (33%) Frequent (79-30%) HP:0000767
22 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
23 narrow chest 58 31 frequent (33%) Frequent (79-30%) HP:0000774
24 gynecomastia 58 31 frequent (33%) Frequent (79-30%) HP:0000771
25 midface retrusion 58 31 frequent (33%) Frequent (79-30%) HP:0011800
26 synophrys 58 31 frequent (33%) Frequent (79-30%) HP:0000664
27 narrow iliac wings 58 31 frequent (33%) Frequent (79-30%) HP:0002868
28 plagiocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0001357
29 anonychia 58 31 frequent (33%) Frequent (79-30%) HP:0001798
30 bilateral cryptorchidism 58 31 occasional (7.5%) Frequent (79-30%) HP:0008689
31 seizure 31 frequent (33%) HP:0001250
32 cerebral calcification 31 occasional (7.5%) HP:0002514
33 self-injurious behavior 31 occasional (7.5%) HP:0100716
34 autism 31 occasional (7.5%) HP:0000717
35 restlessness 31 occasional (7.5%) HP:0000711
36 hypergonadotropic hypogonadism 31 occasional (7.5%) HP:0000815
37 aggressive behavior 31 occasional (7.5%) HP:0000718
38 congenital hypothyroidism 31 occasional (7.5%) HP:0000851
39 macrocephaly 31 HP:0000256
40 seizures 58 Frequent (79-30%)
41 ptosis 31 HP:0000508
42 diabetes mellitus 31 HP:0000819
43 hearing impairment 31 HP:0000365
44 flexion contracture 58 Very frequent (99-80%)
45 brachycephaly 31 HP:0000248
46 thick lower lip vermilion 31 HP:0000179
47 genu valgum 31 HP:0002857
48 abnormal form of the vertebral bodies 58 Very frequent (99-80%)
49 metatarsus adductus 31 HP:0001840
50 osteoporosis 31 HP:0000939

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Head:
macrocephaly
brachycephaly

Head And Neck Eyes:
ptosis
downslanting palpebral fissures
deep-set eyes
posterior polar cataracts

Growth Height:
short stature

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
downward sloping ribs

Skin Nails Hair Hair:
sparse scalp hair
absent facial, axillary, body hair

Chest External Features:
narrow chest

Skeletal Pelvis:
narrow iliac wings
flexion contractures (hips)

Skeletal:
generalized osteoporosis
joint contractures (fingers, hips, knees)

Head And Neck Ears:
superiorly displaced ears
hearing loss
large pinnae
ossification of pinnae

Neurologic Behavioral Psychiatric Manifestations:
aggression (rare)
autism (in some patients)
self-injurious behavior (in some patients)
tics or anxieties (rare)
repetitive compulsive movements (rare)
more
Muscle Soft Tissue:
distal muscle wasting

Skin Nails Hair Nails:
dystrophic fingernails and toenails

Skeletal Skull:
macrocephaly
brachycephaly
basilar impression
maxillary hypoplasia

Skeletal Spine:
kyphosis
posterior scalloping of vertebral bodies
endplate irregularities

Skeletal Limbs:
genu valgum
flexion contractures (knees)
cystic bone lesions

Head And Neck Mouth:
downturned corners of mouth
small mouth
prominent lower lip

Skeletal Feet:
pes cavus
metatarsus varus
flexed toes

Chest Breasts:
gynecomastia

Growth Weight:
truncal obesity
weight above the 90th percentile

Neurologic Central Nervous System:
neurodegeneration
hypotonia
mental retardation
hypoplastic corpus callosum
intracerebral calcifications (in some patients)

Head And Neck Face:
midface hypoplasia
wide forehead
large jaw

Skeletal Hands:
short terminal phalanges

Genitourinary Internal Genitalia Male:
cryptorchidism, bilateral (in some patients)

Endocrine Features:
abnormal glucose tolerance test
insulin-resistant diabetes mellitus in adulthood
congenital hypothyroidism (in some patients)
hypergonadotropic hypogonadism (rare)

Clinical features from OMIM®:

259050 (Updated 05-Apr-2021)

Drugs & Therapeutics for Primrose Syndrome

Drugs for Primrose Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts Phase 2
2 Anti-Retroviral Agents Phase 1
3
Ethanol Approved 64-17-5 702
4 Epoetin alfa 113427-24-0
5 Antibodies
6 Immunoglobulins

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 A Phase 2a, Randomized, Double-blinded, Placebo-Controlled Study to Evaluate the Safety and Efficacy of Lyophilized Fecal Microbiota Transplantation (PRIM-DJ2727) Administered Orally in Combination With Standard of Care Therapy for Prevention of Relapse or Intestinal Inflammation in Adults With Ulcerative Colitis Recruiting NCT04373473 Phase 2 PRIM-DJ2727;Placebos
2 A Prospective, Randomized, Placebo-Controlled Pilot Study to Characterize the Intestinal Microbiome and to Evaluate the Safety and Fecal Microbiome Changes Following Twice Weekly Administration of Lyophilized PRIM-DJ2727 or Placebo Given Orally for 12 Weeks in Subjects With Nonalcoholic Fatty Liver Disease (NAFLD) Not yet recruiting NCT04371653 Phase 2 PRIM-DJ2727;Placebo
3 Phase II. Dose Ranging Study of the Safety and Efficacy of Orally Administered Lyophilized Fecal Microbiota Product (PRIM-DJ2727) for the Treatment of Recurrent Clostridium Difficile Infection (CDI) Terminated NCT03298048 Phase 2
4 Phase II Randomized Clinical Trial of Standard FMT Treatments: Non-powered Pilot Study of the Safety and Efficacy of Orally Administered Lyophilized Fecal Microbiota Product (PRIM-DJ2727) for the Treatment of Recurrent Clostridium Difficile Infection (RCDI) Using Either Single or Three Combined Products From Healthy Donors Withdrawn NCT04729790 Phase 2 PRIM-DJ2727
5 A Prospective, Randomized Placebo Controlled Pilot Study to Characterize the Intestinal Microbiome and to Evaluate the Safety and Fecal Microbiome Changes Following Weekly Administration of Lyophilized PRIM-DJ2727 Given Orally in Subjects With Parkinson's Disease Withdrawn NCT03026231 Phase 1, Phase 2 Placebo (for PRIM-DJ2727)
6 Safety of Fecal Microbiota Transplant Using Oral Encapsulated PRIM-DJ2727 in HIV-infected Persons on Antiretroviral Therapy Completed NCT03329560 Phase 1
7 A Prospective, Randomized, Placebo-Controlled Pilot Study to Characterize the Intestinal Microbiome and to Evaluate the Safety and Fecal Microbiome Changes Following Twice Weekly Administration of Lyophilized PRIM-DJ2727 or Placebo Given Orally for 12 Weeks in Subjects With Parkinson's Disease Active, not recruiting NCT03671785 Phase 1 PRIM-DJ2727;Placebo oral capsule
8 COR-PRIM: Problem-based Learning in Patient Education After an Event of Coronary Heart Disease. A Randomised Study in Primary Care of Long-term Effects on Self-care Unknown status NCT01462799
9 Effectiveness of Two Electrotherapy Techniques to Treat Chronic Low Back Pain Completed NCT02297685
10 One-Shot Percutaneous Electrical Nerve Stimulation vs. Transcutaneous Electrical Nerve Stimulation for Performance Flexor Hallucis Longus Muscle in Professional Dancers Completed NCT03596216
11 Effectiveness of Two Electrotherapy Techniques to Treat Subacromial Impingement Syndrome Completed NCT02110030
12 A Prospective, Immunogenicity Surveillance Registry (PRIMS) to Estimate the Incidence of Erythropoietin Antibody-Mediated Pure Red Cell Aplasia Among Subjects With Chronic Renal Failure and Subcutaneous Exposure to Recombinant Erythropoietin Products Completed NCT00391287
13 Primary Palliative Care for Emergency Medicine (PRIM-ER) Active, not recruiting NCT03424109
14 Fecal Microbiota Transplantation (FMT): PRIM-DJ2727 Available NCT03786900

Search NIH Clinical Center for Primrose Syndrome

Genetic Tests for Primrose Syndrome

Genetic tests related to Primrose Syndrome:

# Genetic test Affiliating Genes
1 Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome 29 ZBTB20

Anatomical Context for Primrose Syndrome

MalaCards organs/tissues related to Primrose Syndrome:

40
Eye, Bone, Liver

Publications for Primrose Syndrome

Articles related to Primrose Syndrome:

(show all 22)
# Title Authors PMID Year
1
Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short stature. 61 57 6
30256248 2019
2
Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism. 57 6 61
27061120 2016
3
Mutations in ZBTB20 cause Primrose syndrome. 6 57 61
25017102 2014
4
New case of Primrose syndrome with mild intellectual disability. 57 61 6
21910247 2011
5
Additional features of unique Primrose syndrome phenotype. 6 57 61
21567911 2011
6
Motor tics, stereotypies, and self-flagellation in primrose syndrome. 61 57
20644156 2010
7
Testicular cancer in a patient with Primrose syndrome. 57 61
16530709 2006
8
The Primrose syndrome with progressive neurological involvement and cerebral calcification. 61 57
12532939 2002
9
A neuropsychiatric disorder associated with dense calcification of the external ears and distal muscle wasting: 'Primrose syndrome'. 57 61
8867656 1996
10
The syndrome of mental handicap, cataracts, muscle wasting and skeletal abnormalities: report of a second case. 57 61
3783663 1986
11
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015
12
A slowly progressive degenerative condition characterized by mental deficiency, wasting of limb musculature and bone abnormalities, including ossification of the pinnae. 57
6809950 1982
13
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20. 61
32071410 2020
14
Unique skeletal manifestations in patients with Primrose syndrome. 61
32473227 2020
15
Primrose syndrome: Characterization of the phenotype in 42 patients. 61
32266967 2020
16
Primrose syndrome associated with unclassified immunodeficiency and a novel ZBTB20 mutation. 61
31821719 2020
17
Expansion of the Primrose syndrome phenotype through the comparative analysis of two new case reports with ZBTB20 variants. 61
31321892 2019
18
Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature. 61
30637921 2019
19
Clinical and functional characterization of two novel ZBTB20 mutations causing Primrose syndrome. 61
29737001 2018
20
Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies. 61
29681083 2018
21
Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome. 61
28462983 2017
22
The effect of homozygous deletion of the BBOX1 and Fibin genes on carnitine level and acyl carnitine profile. 61
24986124 2014

Variations for Primrose Syndrome

ClinVar genetic disease variations for Primrose Syndrome:

6 (show all 28)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ZBTB20 NM_001164342.2(ZBTB20):c.1787A>G (p.His596Arg) SNV Pathogenic 139438 rs483353066 GRCh37: 3:114069138-114069138
GRCh38: 3:114350291-114350291
2 ZBTB20 NM_001164342.2(ZBTB20):c.1861C>T (p.Leu621Phe) SNV Pathogenic 139449 rs483353070 GRCh37: 3:114058217-114058217
GRCh38: 3:114339370-114339370
3 ZBTB20 NM_001164342.2(ZBTB20):c.1805G>C (p.Gly602Ala) SNV Pathogenic 139447 rs483353068 GRCh37: 3:114058273-114058273
GRCh38: 3:114339426-114339426
4 ZBTB20 NM_001164342.2(ZBTB20):c.1768A>C (p.Lys590Gln) SNV Pathogenic 139436 rs483353064 GRCh37: 3:114069157-114069157
GRCh38: 3:114350310-114350310
5 ZBTB20 NM_001164342.2(ZBTB20):c.1771C>G (p.Gln591Glu) SNV Pathogenic 139437 rs483353065 GRCh37: 3:114069154-114069154
GRCh38: 3:114350307-114350307
6 ZBTB20 NM_001164342.2(ZBTB20):c.1802C>T (p.Thr601Ile) SNV Pathogenic 139446 rs483353067 GRCh37: 3:114069123-114069123
GRCh38: 3:114350276-114350276
7 ZBTB20 NM_001164342.2(ZBTB20):c.1811A>C (p.Lys604Thr) SNV Pathogenic 139448 rs483353069 GRCh37: 3:114058267-114058267
GRCh38: 3:114339420-114339420
8 ZBTB20 NM_001164342.2(ZBTB20):c.1876G>A (p.Val626Met) SNV Pathogenic 139450 rs483353063 GRCh37: 3:114058202-114058202
GRCh38: 3:114339355-114339355
9 ZBTB20 NM_001164343.2(ZBTB20):c.2002G>A (p.Gly668Arg) SNV Pathogenic 253111 rs150263896 GRCh37: 3:114057857-114057857
GRCh38: 3:114339010-114339010
10 ZBTB20 NM_001164342.2(ZBTB20):c.1786C>T (p.His596Tyr) SNV Pathogenic 375372 rs1057519435 GRCh37: 3:114069139-114069139
GRCh38: 3:114350292-114350292
11 ZBTB20 NM_015642.6(ZBTB20):c.1581C>G (p.His527Gln) SNV Pathogenic 618973 rs1560110565 GRCh37: 3:114069125-114069125
GRCh38: 3:114350278-114350278
12 ZBTB20 NM_001164342.2(ZBTB20):c.1760T>G (p.Phe587Cys) SNV Pathogenic 638657 rs1576280892 GRCh37: 3:114069165-114069165
GRCh38: 3:114350318-114350318
13 ZBTB20 NM_001164342.2(ZBTB20):c.1837C>T (p.Arg613Cys) SNV Pathogenic 638658 rs1576220876 GRCh37: 3:114058241-114058241
GRCh38: 3:114339394-114339394
14 ZBTB20 NM_001164342.2(ZBTB20):c.1955A>G (p.His652Arg) SNV Pathogenic 638659 rs1560092224 GRCh37: 3:114058123-114058123
GRCh38: 3:114339276-114339276
15 ZBTB20 NM_001348803.2(ZBTB20):c.1817A>C (p.His606Pro) SNV Pathogenic 638660 rs1576220938 GRCh37: 3:114058261-114058261
GRCh38: 3:114339414-114339414
16 ZBTB20 NM_001164343.2(ZBTB20):c.172_178delinsAA (p.Asp58fs) Indel Pathogenic 638661 rs1576288424 GRCh37: 3:114070528-114070534
GRCh38: 3:114351681-114351687
17 ZBTB20 NM_001164342.2(ZBTB20):c.1939A>C (p.Ser647Arg) SNV Pathogenic 638662 rs1576220405 GRCh37: 3:114058139-114058139
GRCh38: 3:114339292-114339292
18 ZBTB20 NM_001164342.2(ZBTB20):c.1862T>C (p.Leu621Pro) SNV Pathogenic 638663 rs1576220750 GRCh37: 3:114058216-114058216
GRCh38: 3:114339369-114339369
19 ZBTB20 NM_001348800.3(ZBTB20):c.1916G>A (p.Cys639Tyr) SNV Pathogenic 929421 GRCh37: 3:114058162-114058162
GRCh38: 3:114339315-114339315
20 ZBTB20 NM_001348800.3(ZBTB20):c.1788C>G (p.His596Gln) SNV Likely pathogenic 975782 GRCh37: 3:114069137-114069137
GRCh38: 3:114350290-114350290
21 ZBTB20 NM_001348800.3(ZBTB20):c.1734T>A (p.Tyr578Ter) SNV Likely pathogenic 801992 rs1576280941 GRCh37: 3:114069191-114069191
GRCh38: 3:114350344-114350344
22 ZBTB20 NM_001348800.3(ZBTB20):c.2075dup (p.Ala693fs) Duplication Uncertain significance 1030239 GRCh37: 3:114058002-114058003
GRCh38: 3:114339155-114339156
23 ZBTB20 NM_001348800.3(ZBTB20):c.641G>A (p.Gly214Asp) SNV Uncertain significance 1030240 GRCh37: 3:114070284-114070284
GRCh38: 3:114351437-114351437
24 ZBTB20 NM_001348800.3(ZBTB20):c.745G>A (p.Ala249Thr) SNV Uncertain significance 1030241 GRCh37: 3:114070180-114070180
GRCh38: 3:114351333-114351333
25 ZBTB20 NM_001348800.3(ZBTB20):c.755T>C (p.Met252Thr) SNV Uncertain significance 1030242 GRCh37: 3:114070170-114070170
GRCh38: 3:114351323-114351323
26 ZBTB20 NM_001164342.2(ZBTB20):c.1318G>A (p.Glu440Lys) SNV Likely benign 770889 rs138924453 GRCh37: 3:114069607-114069607
GRCh38: 3:114350760-114350760
27 ZBTB20 NM_001164343.2(ZBTB20):c.945C>G (p.Asp315Glu) SNV Likely benign 218526 rs144663365 GRCh37: 3:114069761-114069761
GRCh38: 3:114350914-114350914
28 ZBTB20 NM_001164342.2(ZBTB20):c.1805G>A (p.Gly602Asp) SNV not provided 684507 rs483353068 GRCh37: 3:114058273-114058273
GRCh38: 3:114339426-114339426

UniProtKB/Swiss-Prot genetic disease variations for Primrose Syndrome:

72
# Symbol AA change Variation ID SNP ID
1 ZBTB20 p.Lys590Gln VAR_072583 rs483353064
2 ZBTB20 p.His596Arg VAR_072584 rs483353066
3 ZBTB20 p.Gly602Ala VAR_072585 rs483353068
4 ZBTB20 p.Leu621Phe VAR_072586 rs483353070

Expression for Primrose Syndrome

Search GEO for disease gene expression data for Primrose Syndrome.

Pathways for Primrose Syndrome

GO Terms for Primrose Syndrome

Sources for Primrose Syndrome

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
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44 MeSH
45 MESH via Orphanet
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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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