BMRS
MCID: OHD004
MIFTS: 48

Ohdo Syndrome (BMRS)

Categories: Fetal diseases, Mental diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Ohdo Syndrome

MalaCards integrated aliases for Ohdo Syndrome:

Name: Ohdo Syndrome 57 12 20 58 15
Blepharophimosis Syndrome Ohdo Type 20 44 70
Ohdo Blepharophimosis Syndrome 57 12 20
Blepharophimosis-Intellectual Disability Syndrome 20 58
Young Simpson Syndrome 20 70
Bmrs 20 58
Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis, and Hypoplastic Teeth 57
Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis and Hypoplastic Teeth 29
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type 58
Blepharophimosis - Intellectual Disability Syndrome 6
Blepharophimosis Intellectual Disability Syndromes 20
Say Barber Biesecker Young-Simpson Syndrome 20
Blepharophimosis Syndrome, Ohdo Type 58
Ohdo-Madokoro-Sonoda Syndrome 58
Bmrs, Ohdo Type 58
Sbbys Syndrome 20

Characteristics:

Orphanet epidemiological data:

58
blepharophimosis-intellectual disability syndrome, ohdo type
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
blepharophimosis-intellectual disability syndrome
Inheritance: Autosomal recessive,Mitochondrial inheritance,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

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

Miscellaneous:
majority of cases have been sporadic


HPO:

31
ohdo syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Ohdo Syndrome

GARD : 20 Blepharophimosis intellectual disability syndromes refers to a group of syndromes, including Ohdo syndrome and Say Barber Biesecker Young-Simpson syndrome, that are characterized by narrow eye openings (blepharophimosis), drooping of the upper eye lids ( ptosis ) and intellectual disability. Dr. Ohdo published an article in 1986 describing the first three cases of this syndrome (in a brother, sister, and cousin). Since that time many other case reports describing people with similar (yet variable) features have been reported. The syndromes usually occur sporadically. In most cases the underlying cause can not be determined.

MalaCards based summary : Ohdo Syndrome, also known as blepharophimosis syndrome ohdo type, is related to ohdo syndrome, say-barber-biesecker-young-simpson variant and kat6b disorders, and has symptoms including seizures An important gene associated with Ohdo Syndrome is MED12 (Mediator Complex Subunit 12), and among its related pathways/superpathways are Regulation of TP53 Activity and Chromatin organization. The drugs Metformin and insulin have been mentioned in the context of this disorder. Affiliated tissues include heart, eye and kidney, and related phenotypes are ptosis and hearing impairment

Disease Ontology : 12 A syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.

More information from OMIM: 249620

Related Diseases for Ohdo Syndrome

Diseases related to Ohdo Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 ohdo syndrome, say-barber-biesecker-young-simpson variant 32.5 KAT6B DUSP29
2 kat6b disorders 30.6 KAT6B DUSP29
3 blepharophimosis 30.4 UBE3B SMARCA2 MED12 KAT6B DUSP29
4 genitopatellar syndrome 30.3 KAT6B DUSP29
5 ptosis 30.2 UBE3B MED12 KAT6B BRPF1
6 ohdo syndrome, sbbys variant 30.0 UBE3B TMTC4 RALGAPA2 MEAF6 KAT6B KAT6A
7 alacrima, achalasia, and mental retardation syndrome 29.5 SMARCA2 MED13L MED12 KAT6B KAT6A DUSP29
8 ohdo syndrome, x-linked 11.7
9 ohdo syndrome, maat-kievit-brunner type 11.6
10 blepharophimosis-intellectual disability syndrome, sbbys type/genitopatellar overlap syndrome 11.3
11 lin-gettig syndrome 10.3 KAT6B DUSP29
12 pylorospasm 10.2 UBE3B KAT6B
13 familial clubfoot with or without associated lower limb anomalies 10.2 KAT6B DUSP29
14 cleft palate, isolated 10.1
15 microcephaly 10.1
16 hypothyroidism 10.1
17 med12-related disorders 10.1
18 kat6b-related multiple congenital anomalies syndrome 10.1
19 blepharophimosis, ptosis, and epicanthus inversus 10.1
20 epicanthus 10.1
21 cryptorchidism, unilateral or bilateral 10.1
22 microphthalmia 10.1
23 hypogonadism 10.1
24 chilaiditi syndrome 10.1
25 hypotonia 10.1
26 heart septal defect 10.1
27 atrial heart septal defect 10.1
28 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.1 KAT6B DUSP29
29 familial vesicoureteral reflux 10.1 MED13L KAT6B
30 chromosome 16p13.3 deletion syndrome, proximal 10.1 SMARCA2 KAT6B KAT6A
31 branchiootic syndrome 1 10.1
32 congenital hypothyroidism 10.1
33 hypertelorism 10.0 MED13L KAT6B DUSP29
34 cornelia de lange syndrome 10.0 SMARCA2 MED13L MED12
35 opitz-kaveggia syndrome 10.0 MED13L MED12
36 atrophy of testis 10.0 MEAF6 ING5
37 hydronephrosis 10.0
38 macroglossia 9.9
39 autism 9.9
40 dysphasia, familial developmental 9.9
41 macular degeneration, age-related, 1 9.9
42 chromosome 1p36 deletion syndrome 9.9
43 autism spectrum disorder 9.9
44 specific language impairment 9.9
45 respiratory failure 9.9
46 dilated cardiomyopathy 9.9
47 exostosis 9.9
48 growth hormone deficiency 9.9
49 eyelid disease 9.9 UBE3B MED12 KAT6B BRPF1
50 laryngomalacia 9.9

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



Diseases related to Ohdo Syndrome

Symptoms & Phenotypes for Ohdo Syndrome

Human phenotypes related to Ohdo Syndrome:

58 31 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
2 hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000365
3 widely spaced teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000687
4 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
5 microtia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008551
6 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
7 proteinuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0000093
8 intellectual disability, mild 58 31 hallmark (90%) Very frequent (99-80%) HP:0001256
9 microdontia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000691
10 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
11 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
12 postnatal growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008897
13 recurrent otitis media 58 31 hallmark (90%) Very frequent (99-80%) HP:0000403
14 motor delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001270
15 microphthalmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000568
16 amblyopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000646
17 blepharophimosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000581
18 scrotal hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000046
19 abnormal palmar dermatoglyphics 58 31 hallmark (90%) Very frequent (99-80%) HP:0001018
20 hypoplasia of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000685
21 heart murmur 58 31 hallmark (90%) Very frequent (99-80%) HP:0030148
22 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
23 atrial septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001631
24 neonatal asphyxia 58 31 frequent (33%) Frequent (79-30%) HP:0012768
25 multiple bladder diverticula 58 31 frequent (33%) Frequent (79-30%) HP:0012619
26 intellectual disability 31 HP:0001249
27 depressed nasal bridge 31 HP:0005280
28 wide nasal bridge 31 HP:0000431
29 short nose 31 HP:0003196
30 smooth philtrum 31 HP:0000319
31 anteverted nares 31 HP:0000463
32 short stature 31 HP:0004322
33 feeding difficulties in infancy 31 HP:0008872
34 micrognathia 31 HP:0000347
35 epicanthus 31 HP:0000286
36 joint laxity 31 HP:0001388
37 narrow mouth 31 HP:0000160
38 clinodactyly of the 5th finger 31 HP:0004209
39 long philtrum 31 HP:0000343
40 thin vermilion border 31 HP:0000233
41 stenosis of the external auditory canal 31 HP:0000402
42 abnormality of cardiovascular system morphology 31 HP:0030680
43 generalized hypotonia 31 HP:0001290
44 abnormality of the outer ear 58 Very frequent (99-80%)
45 seizure 31 HP:0001250
46 hypotonia 31 HP:0001252
47 sparse and thin eyebrow 31 HP:0000535
48 abnormal foot morphology 31 HP:0001760

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
hypotonia
mental retardation

Head And Neck Nose:
depressed nasal bridge
wide nasal bridge
short, upturned nose

Growth Height:
short stature

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal:
joint laxity

Head And Neck Ears:
small ears
deafness
simple ears
external auditory canal stenosis

Head And Neck Mouth:
small mouth
thin vermilion

Abdomen Gastrointestinal:
feeding problems

Head And Neck Eyes:
ptosis
blepharophimosis
epicanthal folds
sparse eyebrows

Head And Neck Teeth:
widely spaced teeth

Laboratory Abnormalities:
proteinuria

Head And Neck Face:
micrognathia
long, flat philtrum

Genitourinary External Genitalia Male:
scrotal hypoplasia

Skeletal Hands:
fifth finger clinodactyly

Skin Nails Hair Hair:
sparse eyebrows

Skeletal Feet:
overriding 3rd toes

Clinical features from OMIM®:

249620 (Updated 05-Apr-2021)

UMLS symptoms related to Ohdo Syndrome:


seizures

Drugs & Therapeutics for Ohdo Syndrome

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

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4 657-24-9 4091 14219
2 insulin Phase 4
3 Insulin, Globin Zinc Phase 4
4 Hypoglycemic Agents Phase 4
5
Mitoxantrone Approved, Investigational Phase 2 65271-80-9 4212
6
rituximab Approved Phase 2 174722-31-7 10201696
7 Analgesics Phase 2
8 Alkylating Agents Phase 2
9 Antineoplastic Agents, Immunological Phase 2
10 Immunologic Factors Phase 2
11 Antirheumatic Agents Phase 2
12 Bendamustine Hydrochloride Phase 2
13
Testosterone Approved, Investigational 58-22-0 6013
14
Ceftriaxone Approved 73384-59-5 5479530 5361919
15
Cefoxitin Approved 35607-66-0 441199
16
Cefotaxime Approved 63527-52-6 456256 5742673
17
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
18 Liver Extracts
19 Glucagon-Like Peptide 1
20 Vitamins
21 Calciferol
22 Antibiotics, Antitubercular
23 Anti-Bacterial Agents
24 Anti-Infective Agents

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 The Effects of Calorie Restriction - Whether or Not Calculated Based on BMR (Basic Metabolic Rate) - With or Without Metformin on Weight and Insulin Resistance of Obese Insulin Resistant Patients Completed NCT00134290 Phase 4 metformin
2 Effect of a Transcutaneous Electrical Nerve Stimulation (TENS) Device on Overall Facial Appearance Completed NCT01740440 Phase 4
3 A Phase II Study of Bendamustine, Mitoxantrone, and Rituximab (BMR) for Patients With Untreated High Risk Follicular Lymphoma Terminated NCT00901927 Phase 2 Bendamustine;Mitoxantrone;Rituximab
4 Noninvasive Perioperative Monitoring of Arterial Stiffness, Volume and Nutritional Status in Stable Renal Transplant Recipients Unknown status NCT02908139
5 Effects of Calorie Restricted Low Carbohydrate High Fat Ketogenic vs. Non-ketogenic Diet on Strength, Body Composition, Hormonal and Lipid Profile in Trained Middle-aged Men Completed NCT04744558
6 Effect of Focused Ultrasound on Abdominal and Intrahepatic Fat in Patients With Non-alcoholic Fatty Liver Disease Completed NCT04161703
7 Behavioral Exercise Therapy to Optimize Inpatient Behavioral Orthopedic Rehabilitation for Chronic Non-specific Low Back Pain Completed NCT01666639
8 Assessment of Volumetric Hemodynamic Parameters and Nutritional Status in Stable Renal Transplant Recipients Completed NCT02852941
9 Intermittent Fasting and Polycystic Ovarian Syndrome Completed NCT04452968
10 Effect of Ultrasound Cavitation Versus Radiofrequency on Abdominal Fat Thickness in Postnatal Women Completed NCT04452552
11 The Effect of Breakfast With Different Macronutrient Composition on PYY, Ghrelin, GLP-1, Glucose Level, VAS for Hunger, VAS for Satiety and Ad Libitum Intake 4 Hours After Breakfast in Obese Women Completed NCT03697486
12 The Changes of Body Composition, Glucolipid Metabolism and Bone Metabolism in Obese Children and Adolescents After Weight Loss Camp Completed NCT03490448
13 Short and Long-term Results of Arterial Stiffness and Central Aortic Pressure After Kidney Transplantation Completed NCT02443454
14 Estimated Glomerular Filtration Rate After Kidney Transplantation - the Formula Modification of Diet in Renal Disease (MDRD), Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) or Cockroft-Gault? Completed NCT02443363
15 Impact of Cefotaxime and Ceftriaxone on the Emergence and Carrying of Multidrug-Resistant Bacteria and Relationship to Residual Antibiotic Levels in Stool Active, not recruiting NCT03903783
16 Existence in the Human Digestive Flora of Phages Able to Prevent the Acquisition of Multiresistant Enterobacteria: PHAGO- BMR Active, not recruiting NCT03231267

Search NIH Clinical Center for Ohdo Syndrome

Cochrane evidence based reviews: blepharophimosis syndrome ohdo type

Genetic Tests for Ohdo Syndrome

Genetic tests related to Ohdo Syndrome:

# Genetic test Affiliating Genes
1 Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis and Hypoplastic Teeth 29

Anatomical Context for Ohdo Syndrome

MalaCards organs/tissues related to Ohdo Syndrome:

40
Heart, Eye, Kidney, Liver, Bone

Publications for Ohdo Syndrome

Articles related to Ohdo Syndrome:

(show all 40)
# Title Authors PMID Year
1
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. 57 61
22077973 2011
2
A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome. 61 57
18798845 2008
3
Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive. 61 57
16700052 2006
4
Two further cases of Ohdo syndrome delineate the phenotypic variability of the condition. 61 57
12868473 2003
5
Congenital blepharophimosis and ptosis in a mentally retarded girl: a new case of Ohdo syndrome? 57 61
10631927 1999
6
Vertical transmission of the Ohdo blepharophimosis syndrome. 57 61
9605288 1998
7
Two additional cases of the Ohdo blepharophimosis syndrome. 57 61
8279489 1993
8
The Ohdo blepharophimosis syndrome: a third case. 61 57
2002485 1991
9
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome. 6
32694869 2020
10
Mental retardation with blepharophimosis. 57
3656379 1987
11
Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth. 57
3723552 1986
12
De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females. 61
33244166 2020
13
A female patient with X-linked Ohdo syndrome of the Maat-Kievit-Brunner phenotype caused by a novel variant of MED12. 61
31322785 2020
14
MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review. 61
31536828 2020
15
Chronic Otitis Media Associated with Cholesteatoma in a Case of the Say-Barber-Biesecker-Young-Simpson Variant of Ohdo Syndrome. 61
30739122 2019
16
Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: Lumping or splitting? 61
28857140 2019
17
Clinical Variability in Familial X-Linked Ohdo Syndrome-Maat-Kievit-Brunner Type with MED12 Mutation. 61
28794916 2017
18
A novel variant in MED12 gene: Further delineation of phenotype. 61
28544239 2017
19
Autism spectrum disorder in Say-Barber-Biesecker-Young-Simpson syndrome. 61
28710305 2017
20
A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome with a KAT6B 10-base pair palindromic duplication: A recurrent mutation causing a severe phenotype mixed with genitopatellar syndrome. 61
27696664 2017
21
De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy? 61
27500536 2016
22
Two male sibs with severe micrognathia and a missense variant in MED12. 61
27286923 2016
23
Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum. 61
26338144 2015
24
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. 61
24715367 2014
25
Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation. 61
24039113 2013
26
MED12 related disorders. 61
24123922 2013
27
Mutations in MED12 cause X-linked Ohdo syndrome. 61
23395478 2013
28
KAT6B Disorders 61
23236640 2012
29
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. 61
22715153 2012
30
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. 61
22265014 2012
31
MED12-Related Disorders 61
20301719 2008
32
[A case of severe mental retardation with blepharophimosis, ptosis, microphthalmia, microcephalus, hypogonadism and short stature--the difference from Ohdo blepharophimosis syndrome]. 61
15176598 2004
33
Skeletal manifestations in Ohdo syndrome: a case with bilateral patella dislocations. 61
15127758 2004
34
A boy with mental retardation, blepharophimosis and hypothyroidism: a diagnostic dilemma between Young-Simpson and Ohdo syndrome. 61
10955481 2000
35
Growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia: confirmation of the ROCA-Wiedemann syndrome. 61
10706355 2000
36
Unknown syndrome in two male sibs with hypotonia, ptosis, hand malformations, 2/3 toes syndactyly, and mental retardation. 61
10422013 1999
37
Congenital ptosis and blepharophimosis in a mentally retarded girl: a new case of Ohdo syndrome? 61
9546834 1998
38
Ohdo syndrome: report on a Brazilian girl with additional findings. 61
9184251 1997
39
Blepharophimosis, ptosis and mental retardation: further delineation of Ohdo syndrome. 61
7519949 1994
40
A case with blepharophimosis resembling Ohdo syndrome. 61
8055131 1994

Variations for Ohdo Syndrome

ClinVar genetic disease variations for Ohdo Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SMARCA2 NM_003070.5(SMARCA2):c.1529A>G (p.Asp510Gly) SNV Likely pathogenic 982400 GRCh37: 9:2060823-2060823
GRCh38: 9:2060823-2060823

Expression for Ohdo Syndrome

Search GEO for disease gene expression data for Ohdo Syndrome.

Pathways for Ohdo Syndrome

GO Terms for Ohdo Syndrome

Cellular components related to Ohdo Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.97 SMARCA2 REST RALGAPA2 PCBP3 MED13L MED12
2 chromosome GO:0005694 9.56 MEAF6 ING5 BRPF1 BRD1
3 mediator complex GO:0016592 9.32 MED13L MED12
4 histone acetyltransferase complex GO:0000123 9.13 MEAF6 ING5 BRPF1
5 MOZ/MORF histone acetyltransferase complex GO:0070776 9.1 MEAF6 KAT6B KAT6A ING5 BRPF1 BRD1

Biological processes related to Ohdo Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.91 SMARCA2 REST MED12 KAT6B KAT6A ING5
2 chromatin organization GO:0006325 9.8 MEAF6 KAT6B KAT6A ING5 BRPF1 BRD1
3 negative regulation of transcription, DNA-templated GO:0045892 9.76 SMARCA2 REST KAT6B KAT6A
4 regulation of signal transduction by p53 class mediator GO:1901796 9.71 MEAF6 KAT6A ING5 BRPF1
5 histone acetylation GO:0016573 9.56 MEAF6 KAT6B KAT6A ING5
6 protein acetylation GO:0006473 9.43 KAT6A ING5
7 histone H3 acetylation GO:0043966 9.35 KAT6B KAT6A ING5 BRPF1 BRD1
8 histone H3-K23 acetylation GO:0043972 9.33 MEAF6 BRPF1 BRD1
9 histone H3-K14 acetylation GO:0044154 8.92 MEAF6 ING5 BRPF1 BRD1

Molecular functions related to Ohdo Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.67 SMARCA2 REST MED12 ING5
2 transcription factor binding GO:0008134 9.56 REST MED12 KAT6B KAT6A
3 transcription coregulator activity GO:0003712 9.46 MED13L MED12 KAT6B KAT6A
4 histone acetyltransferase activity GO:0004402 9.4 KAT6B KAT6A
5 histone binding GO:0042393 9.35 SMARCA2 KAT6B KAT6A BRPF1 BRD1
6 acetyltransferase activity GO:0016407 9.32 KAT6B KAT6A
7 histone acetyltransferase activity (H3-K23 specific) GO:0043994 8.8 MEAF6 BRPF1 BRD1

Sources for Ohdo 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
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