BABS
MCID: BCH004
MIFTS: 31

Bachmann-Bupp Syndrome (BABS)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Bachmann-Bupp Syndrome

MalaCards integrated aliases for Bachmann-Bupp Syndrome:

Name: Bachmann-Bupp Syndrome 57 6
Neurodevelopmental Disorder with Alopecia and Brain Abnormalities 57 6
Neurodevelopmental Disorder with Alopecia and Brain Abnormalities; Nedaba 57
Nedaba 57
Babs 57

Characteristics:

OMIM®:

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


HPO:

31
bachmann-bupp syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Bachmann-Bupp Syndrome

OMIM® : 57 Bachmann-Bupp syndrome (BABS) is a neurometabolic disorder associated with global developmental delay, ectodermal abnormalities including alopecia, absolute or relative macrocephaly, dysmorphic features, and characteristic neuroimaging features (summary by Rodan et al., 2018). (619075) (Updated 05-Apr-2021)

MalaCards based summary : Bachmann-Bupp Syndrome, also known as neurodevelopmental disorder with alopecia and brain abnormalities, is related to global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome and body dysmorphic disorder. An important gene associated with Bachmann-Bupp Syndrome is ODC1 (Ornithine Decarboxylase 1). The drugs Fennel and Peppermint have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and bone, and related phenotypes are ptosis and cerebral calcification

Related Diseases for Bachmann-Bupp Syndrome

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

(showing 3, show less)
# Related Disease Score Top Affiliating Genes
1 global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome 11.3
2 body dysmorphic disorder 9.9
3 psychotic disorder 9.9

Symptoms & Phenotypes for Bachmann-Bupp Syndrome

Human phenotypes related to Bachmann-Bupp Syndrome:

31 (showing 38, show less)
# Description HPO Frequency HPO Source Accession
1 ptosis 31 very rare (1%) HP:0000508
2 cerebral calcification 31 very rare (1%) HP:0002514
3 high palate 31 very rare (1%) HP:0000218
4 global developmental delay 31 very rare (1%) HP:0001263
5 hypertelorism 31 very rare (1%) HP:0000316
6 delayed speech and language development 31 very rare (1%) HP:0000750
7 sensorineural hearing impairment 31 very rare (1%) HP:0000407
8 neonatal hypotonia 31 very rare (1%) HP:0001319
9 feeding difficulties in infancy 31 very rare (1%) HP:0008872
10 hypoglycemia 31 very rare (1%) HP:0001943
11 cryptorchidism 31 very rare (1%) HP:0000028
12 dry skin 31 very rare (1%) HP:0000958
13 attention deficit hyperactivity disorder 31 very rare (1%) HP:0007018
14 downslanted palpebral fissures 31 very rare (1%) HP:0000494
15 clinodactyly of the 5th finger 31 very rare (1%) HP:0004209
16 polyhydramnios 31 very rare (1%) HP:0001561
17 thin upper lip vermilion 31 very rare (1%) HP:0000219
18 deeply set eye 31 very rare (1%) HP:0000490
19 sparse scalp hair 31 very rare (1%) HP:0002209
20 high forehead 31 very rare (1%) HP:0000348
21 blepharophimosis 31 very rare (1%) HP:0000581
22 decreased fetal movement 31 very rare (1%) HP:0001558
23 large for gestational age 31 very rare (1%) HP:0001520
24 hyperbilirubinemia 31 very rare (1%) HP:0002904
25 cupped ear 31 very rare (1%) HP:0000378
26 sparse eyelashes 31 very rare (1%) HP:0000653
27 aggressive behavior 31 very rare (1%) HP:0000718
28 generalized hypotonia 31 very rare (1%) HP:0001290
29 small nail 31 very rare (1%) HP:0001792
30 lower limb spasticity 31 very rare (1%) HP:0002061
31 absent eyebrow 31 very rare (1%) HP:0002223
32 dysgenesis of the cerebellar vermis 31 very rare (1%) HP:0002195
33 macrocephaly at birth 31 very rare (1%) HP:0004488
34 perivascular spaces 31 very rare (1%) HP:0012520
35 delayed ability to walk 31 very rare (1%) HP:0031936
36 periventricular cysts 31 very rare (1%) HP:0007109
37 keratosis pilaris 31 very rare (1%) HP:0032152
38 focal polymicrogyria 31 very rare (1%) HP:0032471

Symptoms via clinical synopsis from OMIM®:

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

Genitourinary Internal Genitalia Male:
cryptorchidism

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Neurologic Central Nervous System:
short corpus callosum
developmental delay
lower extremity spasticity (1 patient)
hypotonia: aggressive behavior (in some patients)
periventricular cysts seen on brain mri
more
Neurologic Behavioral Psychiatric Manifestations:
adhd (in some patients)

Laboratory Abnormalities:
elevated rbc putrescine elevated plasma n-acetylputrescine

Head And Neck Eyes:
hypertelorism
sparse eyelashes
ptosis: blepharophimosis
delayed visual maturation (1 patient)

Skin Nails Hair Hair:
alopecia
sparse scalp hair
sparse eyebrows
absent eyebrows

Head And Neck Face:
high forehead

Prenatal Manifestations Movement:
decreased fetal activity

Head And Neck Ears:
unilateral sensorineural hearing loss (1 patient)
cupped ears (1 patient)

Clinical features from OMIM®:

619075 (Updated 05-Apr-2021)

Drugs & Therapeutics for Bachmann-Bupp Syndrome

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

(showing 8, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fennel Approved, Experimental
2
Peppermint Approved
3 Acidophilus
4 Anise
5 Immunoglobulins
6 Antibodies
7 interferons
8 Antibodies, Blocking

Interventional clinical trials:

(showing 3, show less)
# Name Status NCT ID Phase Drugs
1 A Prospective Randomized Controlled Study: Lactobacillus Reuteri Versus Herbal Drop in the Treatment of Infantile Colic Completed NCT01855269
2 A Randomized, Controlled, Open-Label Parallel Group Study to Evaluate the Effect of Regularly Scheduled Neutralizing Antibody Testing on Treatment Patterns Versus Usual Care in High-Dose Interferon Treated Patients Completed NCT00336557
3 Microbiome And Multi'Omics In Preterm Birth: The Bacteria And Birth Study (BaBs) Active, not recruiting NCT02392650

Search NIH Clinical Center for Bachmann-Bupp Syndrome

Genetic Tests for Bachmann-Bupp Syndrome

Anatomical Context for Bachmann-Bupp Syndrome

MalaCards organs/tissues related to Bachmann-Bupp Syndrome:

40
Brain, Eye, Bone

Publications for Bachmann-Bupp Syndrome

Articles related to Bachmann-Bupp Syndrome:

(showing 120, show less)
# Title Authors PMID Year
1
Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features. 57 6
30239107 2018
2
Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities. 57
30475435 2018
3
Mechanism of Inhibition of Cytochrome c Oxidase by Triton X-100. 61
33705281 2021
4
Bispecific antibodies: a novel approach for targeting prominent biomarkers. 61
32614706 2020
5
An evaluation of intensity of delusional belief in patients with delusional infestation pre- and post-treatment in a specialist psychodermatology center. 61
30270706 2020
6
Prominent autistic traits and subthreshold bipolar/mixed features of depression in severe anorexia nervosa. 61
31691722 2020
7
Event-related EEG oscillations in body dysmorphic disorder. 61
31995842 2020
8
Optical properties and source identification of black carbon and brown carbon: comparison of winter and summer haze episodes in Xi'an, Northwest China. 61
31701994 2019
9
Overlap of obsessive-compulsive personality disorder and autism spectrum disorder traits among OCD outpatients: an exploratory study. 61
31375037 2019
10
Comparative Evaluation of the Book-Type Acellular Bone Scaffold and Fibrocartilage Scaffold for Bone-Tendon Healing. 61
30977542 2019
11
Brown carbon in the continental outflow to the North Indian Ocean. 61
31089643 2019
12
Application of a transdiagnostic treatment for emotional disorders to body dysmorphic disorder: A randomized controlled trial. 61
30445389 2019
13
Associations of cortical thickness, surface area and subcortical volumes with insight in drug-naïve adults with obsessive-compulsive disorder. 61
31704545 2019
14
Are Mentalizing Abilities and Insight Related to the Severity of Obsessive-Compulsive Disorder. 61
30122030 2018
15
Morphological characterization of pulmonary microvascular disease in bronchopulmonary dysplasia caused by hyperoxia in newborn mice. 61
29362947 2018
16
Multi-centre phase IV trial to investigate the immunogenicity of a new liquid formulation of recombinant human growth hormone in adults with growth hormone deficiency. 61
29488103 2018
17
Influence of Pre-existing Anti-capsid Neutralizing and Binding Antibodies on AAV Vector Transduction. 61
29766022 2018
18
The relationship between theory of mind and insight in obsessive-compulsive disorder. 61
29426262 2018
19
Anti-Interferon Alpha Antibodies in Patients with High-Risk BCR/ABL-Negative Myeloproliferative Neoplasms Treated with Recombinant Human Interferon-α. 61
29693647 2018
20
Religiosity and religious delusions in schizophrenia - An observational study in a Hindu population. 61
29202427 2018
21
Insight in body dysmorphic disorder (BDD) relative to obsessive-compulsive disorder (OCD) and psychotic disorders: Revisiting this issue in light of DSM-5. 61
28651226 2017
22
Carbohydrate Bis-acetal-Based Substrates as Tunable Fluorescence-Quenched Probes for Monitoring exo-Glycosidase Activity. 61
28631482 2017
23
New drugs, new toxicities: severe side effects of modern targeted and immunotherapy of cancer and their management. 61
28407743 2017
24
Gambling behavior among Macau college and university students. 61
28435769 2017
25
The cross-reactivity of binding antibodies with different interferon beta formulations used as disease-modifying drugs in multiple sclerosis patients. 61
27828855 2016
26
Incidence, characterization, and clinical impact analysis of peginterferon beta1a immunogenicity in patients with multiple sclerosis in the ADVANCE trial. 61
27366230 2016
27
Optical properties of PM2.5 and the impacts of chemical compositions in the coastal city Xiamen in China. 61
27037888 2016
28
The Impact of Vitamin D, Calcium, Protein Supplementation, and Physical Exercise on Bone Metabolism After Bariatric Surgery: The BABS Study. 61
26350034 2016
29
An intensive study on aerosol optical properties and affecting factors in Nanjing, China. 61
26969543 2016
30
Optical and thermal characteristics of carbonaceous aerosols measured at an urban site in Gwangju, Korea, in the winter of 2011. 61
26452763 2016
31
The Impact of Methylprednisolone Pulses during Relapses of Multiple Sclerosis on the Kinetics of Anti-Interferon-Beta Antibodies. 61
26867030 2016
32
The Impact of a Volunteer Postpartum Doula Program on Breastfeeding Success: A Case Study. 61
25900845 2015
33
Human alpha-fetal protein immunoassay using fluorescence suppression with fluorescent-bead/antibody conjugate and enzymatic reaction. 61
25897880 2015
34
Simulations of site-specific target-mediated pharmacokinetic models for guiding the development of bispecific antibodies. 61
25559227 2015
35
The German version of the Brown Assessment of Beliefs Scale (BABS): Development and evaluation of its psychometric properties. 61
25104611 2014
36
A study of poor insight in social anxiety disorder. 61
24972547 2014
37
Psychopathology and quality of life among patients with comorbidity between schizophrenia spectrum disorder and obsessive-compulsive disorder: no evidence for a "schizo-obsessive" subtype. 61
24794642 2014
38
Early detection of neutralizing antibodies to interferon-beta in multiple sclerosis patients: binding antibodies predict neutralizing antibody development. 61
24009164 2014
39
Antibodies against interferon-beta in neuromyelitis optica patients. 61
24477087 2014
40
Guidelines on the clinical use for the detection of neutralizing antibodies (NAbs) to IFN beta in multiple sclerosis therapy: report from the Italian Multiple Sclerosis Study group. 61
24374787 2014
41
BAb and MxA as functional biomarkers in routine clinical laboratories for the determination of anti-IFN-beta antibodies and their bioactivity levels in multiple sclerosis patients. 61
24547871 2014
42
Breastfeeding initiation and duration in first-time mothers: exploring the impact of father involvement in the early post-partum period. 61
25649998 2014
43
Efficacy of cognitive behaviour therapy versus anxiety management for body dysmorphic disorder: a randomised controlled trial. 61
25323062 2014
44
Characterization of carbonaceous aerosols over Delhi in Ganga basin: seasonal variability and possible sources. 61
24728570 2014
45
Antibodies to interferon beta in patients with multiple sclerosis receiving CinnoVex, rebif, and betaferon. 61
24339712 2013
46
Psychometric evaluation of the Brown Assessment of Beliefs Scale in body dysmorphic disorder. 61
23817164 2013
47
Mentoring through teamwork: lessons learned. 61
23901620 2013
48
Serum levels of IL-17A in patients with relapsing-remitting multiple sclerosis treated with interferon-β. 61
23207971 2013
49
Correlates of insight into different symptom dimensions in obsessive-compulsive disorder. 61
23376865 2013
50
Delusionality of body image beliefs in eating disorders. 61
22494704 2012
51
A comparison of insight in body dysmorphic disorder and obsessive-compulsive disorder. 61
22819678 2012
52
Correlation between anti-interferon-β binding and neutralizing antibodies in interferon-β-treated multiple sclerosis patients. 61
22564111 2012
53
Bioactive bead-mediated transformation of plants with large DNA fragments. 61
22351002 2012
54
Insight in obsessive-compulsive disorder: a comparative study of insight measures in an Israeli clinical sample. 61
21450265 2011
55
Dimensional correlates of poor insight in obsessive-compulsive disorder. 61
21640153 2011
56
One-year evaluation of factors affecting the biological activity of interferon beta in multiple sclerosis patients. 61
21153733 2011
57
The relationship between insight and uncertainty in obsessive-compulsive disorder. 61
21546788 2011
58
Aggregated recombinant human interferon Beta induces antibodies but no memory in immune-tolerant transgenic mice. 61
20499141 2010
59
Eating disorders in patients with obsessive-compulsive disorder: prevalence and clinical correlates. 61
19424977 2010
60
Obsessive-compulsive disorder with poor insight: a three-year prospective study. 61
20015461 2010
61
[Autistic dimension in obsessive-compulsive disorder in adolescence]. 61
20568580 2010
62
Hybrid transgenic immune tolerant mouse model for assessing the breaking of B cell tolerance by human interferon beta. 61
19857496 2010
63
Babs steele was a fighter who will be sorely missed. 61
28086342 2009
64
Evaluation of a multiplex bead-based screening assay for detection of binding antibodies to interferon-beta. 61
19345423 2009
65
Behavioral, physiological, and cellular responses following trophic transfer of toxic monoaromatic hydrocarbons. 61
19378460 2009
66
Neutralizing and binding antibodies to interferon beta in patients with multiple sclerosis: a comparison of assay results from three italian centres. 61
19117201 2009
67
Unresolved complex mixtures (UCMs) of aromatic hydrocarbons: branched alkyl indanes and branched alkyl tetralins are present in UCMs and accumulated by and toxic to, the mussel Mytilus edulis. 61
19031912 2008
68
Neutralizing antibodies against interferon-Beta. 61
21180570 2008
69
Validating parameters of a luciferase reporter gene assay to measure neutralizing antibodies to IFNbeta in multiple sclerosis patients. 61
18511063 2008
70
Development of a bioassay for quantification of neutralising antibodies against human interferon-beta in mouse sera. 61
18558408 2008
71
Predictive markers for response to interferon therapy in patients with multiple sclerosis. 61
18272865 2008
72
Chronic sublethal effects associated with branched alkylbenzenes bioaccumulated by mussels. 61
17988179 2008
73
Results of immunotherapy for patients with unexplained primary recurrent abortions--prospective non-randomized cohort study. 61
17997752 2007
74
Anti-interferon-beta neutralising activity is not entirely mediated by antibodies. 61
17950468 2007
75
Identification of interferon-beta antibodies in a reference laboratory setting: findings for 1144 consecutive sera. 61
17889376 2007
76
IFNbeta bioavailability in multiple sclerosis patients: MxA versus antibody-detecting assays. 61
17619058 2007
77
Awareness of illness and insight into obsessive-compulsive symptoms in schizophrenia patients with obsessive-compulsive disorder. 61
17984777 2007
78
Is anorexia nervosa a delusional disorder? An assessment of eating beliefs in anorexia nervosa. 61
17414681 2007
79
Neutralizing antibodies to interferon beta in multiple sclerosis: analytical evaluation for validation of a cytopathic effect assay. 61
17123498 2007
80
Unresolved complex mixtures of aromatic hydrocarbons: thousands of overlooked persistent, bioaccumulative, and toxic contaminants in mussels. 61
17310707 2007
81
Qualitative and quantitative analysis of antibody response against IFNbeta in patients with multiple sclerosis. 61
17263001 2006
82
Encapsulation of RIN-m5F cells within Ba2+ cross-linked alginate beads affects proliferation and insulin secretion. 61
17118882 2006
83
[The clinical pharmacology of beta-adrenoblockers]. 61
16758913 2006
84
[Determination of the bactericidal activity of blood serum by recombinant luminescence strains of Escherichia coli]. 61
15804103 2005
85
Birmingham assessment of breathing study (BABS). 61
15629563 2005
86
[Concentration of glutathione (GSH), ascorbic acid (vitamin C) and substances reacting with thiobarbituric acid (TBA-rs) in single human brain metastases]. 61
16425787 2005
87
[Influence of therapy with atenolol on lethality of patients with chronic heart failure]. 61
15941137 2005
88
Measurement of neutralizing antibodies to interferon beta in patients with multiple sclerosis. 61
15264110 2004
89
Clinical characteristics and treatment response in poor and good insight obsessive-compulsive disorder. 61
15196601 2004
90
The clinical impact of interferon beta antibodies in relapsing-remitting MS. 61
15015010 2004
91
Insight in obsessive compulsive disorder and body dysmorphic disorder. 61
14671731 2004
92
Kinetic analysis of interactions between bispecific monoclonal antibodies and immobilized antigens using a resonant mirror biosensor. 61
12972199 2003
93
Results of immunotherapy for patients with unexplained secondary recurrent abortions. 61
12706403 2003
94
Analysis of bispecific monoclonal antibody binding to immobilized antigens using an optical biosensor. 61
12600264 2002
95
Analysis of the binding of bispecific monoclonal antibodies with immobilized antigens (human IgG and horseradish peroxidase) using a resonant mirror biosensor. 61
11861069 2002
96
Insight and treatment outcome in obsessive-compulsive disorder. 61
11704942 2001
97
The comparison of the ability of monoclonal antibodies directed to different proteins (human IgG, human myoglobin and HRP) and bispecific antibodies derived thereof to bind antigens immobilized on a surface of a solid phase. 61
11408007 2001
98
[The binding of bispecific monoclonal antibodies to the solid phase-adsorbed antigens]. 61
11558260 2001
99
Delusionality and response to open-label fluvoxamine in body dysmorphic disorder. 61
11247107 2001
100
[Concentration of glutathione (GSH), ascorbic acid (Vit. C), and thiobarbiturate acid reacting components (MDA) in brain neoplasms]. 61
11928548 2001
101
Neurosurgical management of brain abscesses in children. 61
10461779 1999
102
Relationship between MLR blocking antibodies and the outcome of the third pregnancy in patients with two consecutive spontaneous abortions. 61
9595367 1998
103
[Immunologic characteristics of women recurrent spontaneous abortion of unknown etiology. II. Characterization of humoral immunology]. 61
9480239 1997
104
[Efficiency of lymphocyte immunization by the partner in prevention of unexplained recurrent spontaneous abortion. II. Immunologic prognostic factors]. 61
9463081 1997
105
Source Apportionment of Sulfur and Light Extinction Using Receptor Modeling Techniques. 61
29081286 1997
106
Quantitative analysis of the products of IgG chain recombination in hybrid hybridomas based on affinity chromatography and radioimmunoassay. 61
9032409 1997
107
Study of antigen-binding properties of bispecific antibodies. 61
9113728 1997
108
Symmetry of Fv architecture is conducive to grafting a second antibody binding site in the Fv region. 61
8889174 1996
109
Prevention of anterior cruciate ligament injuries in soccer. A prospective controlled study of proprioceptive training. 61
8963746 1996
110
[Bispecific monoclonal antibodies: the isolation and study of their antigen-binding properties]. 61
8754079 1996
111
Induction of tumor-cell lysis by bi-specific antibody recognizing ganglioside GD2 and T-cell antigen CD3. 61
8375931 1993
112
[The interaction of bifunctional monoclonal antibodies with antigens studied by a radioimmunological method]. 61
7906961 1993
113
Is an additional vaccination necessary for a successful second pregnancy in unexplained recurrent aborters who were successfully immunized with their husband's lymphocytes before the first pregnancy? 61
8503994 1993
114
Continued breakdown of the blood aqueous barrier following cataract surgery. 61
1390524 1992
115
BAP, a rat liver protein that activates transcription through a promoter element with similarity to the USF/MLTF binding site. 61
2175884 1990
116
Result of immunotherapy on patients with unexplained recurrent abortion: a beneficial treatment for patients with negative blocking antibodies. 61
2145853 1990
117
Optimization of beta-blockers' pharmacology. 61
11527110 1990
118
Production of blocking antibodies by vaccination with husband's lymphocytes in unexplained recurrent aborters: the role in successful pregnancy. 61
2938488 1986
119
[Application of cytocentrifugation to routine cytological diagnosis of solid pathologic tissues (author's transl)]. 61
6172137 1981
120
[In memoriam. Johanna Susanna (Babs) Le Roux]. 61
4610811 1974

Variations for Bachmann-Bupp Syndrome

ClinVar genetic disease variations for Bachmann-Bupp Syndrome:

6 (showing 6, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ODC1 NM_002539.3(ODC1):c.1241+1G>T SNV Pathogenic 983285 GRCh37: 2:10581634-10581634
GRCh38: 2:10441508-10441508
2 ODC1 NM_002539.3(ODC1):c.1240_1241dup (p.Trp414fs) Duplication Pathogenic 983286 GRCh37: 2:10581634-10581635
GRCh38: 2:10441508-10441509
3 ODC1 NM_002539.3(ODC1):c.1255C>T (p.Gln419Ter) SNV Pathogenic 983287 GRCh37: 2:10580981-10580981
GRCh38: 2:10440855-10440855
4 ODC1 NM_001287190.1:c.1242_1263del22 Deletion Pathogenic 983288 GRCh37: 2:10580973-10580994
GRCh38: 2:10440847-10440868
5 ODC1 NM_002539.3(ODC1):c.1342A>T (p.Lys448Ter) SNV Pathogenic 983289 GRCh37: 2:10580894-10580894
GRCh38: 2:10440768-10440768
6 ODC1 NM_002539.3(ODC1):c.1313_1316del (p.Pro438fs) Deletion Likely pathogenic 978044 GRCh37: 2:10580920-10580923
GRCh38: 2:10440794-10440797

Expression for Bachmann-Bupp Syndrome

Search GEO for disease gene expression data for Bachmann-Bupp Syndrome.

Pathways for Bachmann-Bupp Syndrome

GO Terms for Bachmann-Bupp Syndrome

Sources for Bachmann-Bupp 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
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
Content
Loading form....