BDMR
MCID: CHR543
MIFTS: 46

Chromosome 2q37 Deletion Syndrome (BDMR)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Chromosome 2q37 Deletion Syndrome

MalaCards integrated aliases for Chromosome 2q37 Deletion Syndrome:

Name: Chromosome 2q37 Deletion Syndrome 56 12 52 25 73 29 43 15 71
Brachydactyly-Mental Retardation Syndrome 56 25 73 36 29 13 6
Albright Hereditary Osteodystrophy-Like Syndrome 56 12 52 25 58 73
Brachydactyly-Intellectual Disability Syndrome 12 52 58
2q37 Microdeletion Syndrome 12 25 58
Deletion 2q37 12 25 58
Bdmr 56 12 73
Albright Hereditary Osteodystrophy Type 3 12 58
2q37 Deletion Syndrome 52 25
Monosomy 2q37qter 12 58
Del(2)(q37) 12 58
Albright's Hereditary Osteodystrophy-Like Syndrome 12
Brachydactyly-Mental Retardation Syndrome; Bdmr 56
Deletion Syndrome, Chromosome 2q37 39
Monosomy 2q37 25

Characteristics:

Orphanet epidemiological data:

58
2q37 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
onset at birth
phenotypic overlap with albright hereditary osteodystrophy (aho, ) and smith-magenis syndrome (sms, )


HPO:

31
chromosome 2q37 deletion syndrome:
Inheritance autosomal dominant inheritance somatic mutation
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Chromosome 2q37 Deletion Syndrome

Genetics Home Reference : 25 2q37 deletion syndrome is a condition that can affect many parts of the body. Most babies with 2q37 deletion syndrome are born with weak muscle tone (hypotonia), which usually improves with age. Other neurological abnormalities that are common in affected individuals include mild to severe intellectual disability; delayed development of motor skills, such as sitting and walking; and behavioral problems. About 25 percent of people with this condition have autism spectrum disorder, a developmental condition that affects communication and social interaction. Unusual physical features are also common in people with 2q37 deletion syndrome. About half of affected individuals have unusually short fingers and toes (brachydactyly), often with abnormally short fourth toes that may overlap the other toes. Additional features of this condition may include short stature, obesity, or sparse hair. Many people with 2q37 deletion syndrome have characteristic facial features that can include a prominent forehead, a low frontal hairline, thin eyelids, skin folds covering the inner corner of the eyes (epicanthal folds), outside corners of the eyes that point upward (upslanting palpebral fissures), a small nose, a small mouth with thin lips, a smooth space between the upper lip and nose (smooth philtrum), prominent cheekbones, a large chin, and minor ear abnormalities. Other features of 2q37 deletion syndrome can include seizures and an inflammatory skin disorder called eczema. Some affected individuals have malformations of the brain, heart, gastrointestinal system, kidneys, or genitalia. A few people with 2q37 deletion syndrome develop a rare form of kidney cancer called Wilms tumor.

MalaCards based summary : Chromosome 2q37 Deletion Syndrome, also known as brachydactyly-mental retardation syndrome, is related to brachydactyly and pseudopseudohypoparathyroidism. An important gene associated with Chromosome 2q37 Deletion Syndrome is HDAC4 (Histone Deacetylase 4), and among its related pathways/superpathways is Development_Hedgehog and PTH signaling pathways in bone and cartilage development. Affiliated tissues include heart, kidney and brain, and related phenotypes are intellectual disability and global developmental delay

Disease Ontology : 12 A chromosomal deletion syndrome characterized by variable features, likely resulting from different sized deletions, including; brachydactyly type E, short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features that has material basis in heterozygosity for a contiguous deletion of several genes on chromosome 2q37.2.

NIH Rare Diseases : 52 2q37 deletion syndrome is a chromosome disease that can affect many parts of the body. About 100 cases have been reported worldwide. This condition is characterized by short stature , weak muscle tone (hypotonia ) in infancy, mild to severe intellectual disability and developmental delay , autistic behavior, obesity, characteristic facial features, and other physical abnormalities, such as short bones of the hand and of 3-5 fingers, and abnormal lateral curvature of the spine (scoliosis ). Other findings include seizures (20%-35%), congenital heart disease, brain abnormalities (hydrocephalus , dilated ventricles), umbilical/inguinal hernia, tracheomalacia, gastrointestinal abnormalities, and kidney malformations. 2q37 deletion syndrome is caused by a deletion of the genetic material from a specific region in the long (q) arm of chromosome 2 . Most cases are not inherited . Treatment depends on the symptoms and may require several specialists.

OMIM : 56 Patients with chromosome 2q37 deletion syndrome show highly variable clinical manifestations likely resulting from different deletion sizes and deletions of different genes. Variable clinical features included brachydactyly type E (BDE), affecting the metacarpals and metatarsals (in about 50% of patients), short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features. However, many individuals with deletions do not show cognitive deficits (summary by Villavicencio-Lorini et al., 2013, Wheeler et al., 2014, Jean-Marcais et al., 2015). (600430)

KEGG : 36 Brachydactyly mental retardation syndrome (BDMR), also known as Albright hereditary osteodystrophy-like syndrome, is a complex disorder characterized by brachydactyly and mental retardation including autism spectrum disorder. It has been confirmed that this disease is associated with some deletions of 2q37. Individuals with BDMR and Smith-Magenis syndrome (SMS) have very similar features. Mutation of the BDMR-causative gene HDAC4 results in reduced expression of RAI1, whose haploinsufficiency leads to SMS.

UniProtKB/Swiss-Prot : 73 Brachydactyly-mental retardation syndrome: A syndrome resembling the physical anomalies found in Albright hereditary osteodystrophy. Common features are mild facial dysmorphism, congenital heart defects, distinct brachydactyly type E, mental retardation, developmental delay, seizures, autism spectrum disorder, and stocky build. Soft tissue ossification is absent, and there are no abnormalities in parathyroid hormone or calcium metabolism.

Wikipedia : 74 2q37 deletion syndrome is a disorder caused by the deletion of a small piece of chromosome 2 in which... more...

Related Diseases for Chromosome 2q37 Deletion Syndrome

Diseases related to Chromosome 2q37 Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 brachydactyly 30.4 STX16 PTH HDAC4 GNAS
2 pseudopseudohypoparathyroidism 30.2 STX16 STK25 PTH GNAS-AS1 GNAS
3 pseudohypoparathyroidism 30.2 STX16 PTH GNAS-AS1 GNAS
4 pseudohypoparathyroidism, type ia 29.9 STX16 PTH HDAC4 GNAS-AS1 GNAS
5 thumbs, stiff, with brachydactyly type a1 and developmental delay 11.4
6 chromosome 2q35 duplication syndrome 10.3
7 horseshoe kidney 10.3
8 infantile hypotonia 10.3
9 autism spectrum disorder 10.3
10 diabetes insipidus 10.3
11 brachydactyly, type e1 10.2
12 osteitis fibrosa 10.2 PTH GNAS
13 disorders of gnas inactivation 10.2 STX16 GNAS-AS1 GNAS
14 bone benign neoplasm 10.2 PTH GNAS
15 autism 10.2
16 smith-magenis syndrome 10.1
17 hyperoxaluria, primary, type i 10.1
18 alacrima, achalasia, and mental retardation syndrome 10.1
19 autosomal recessive disease 10.1
20 renal fibrosis 10.1
21 pyelonephritis 10.1
22 xanthogranulomatous pyelonephritis 10.1
23 primary hyperoxaluria 10.1
24 chromosomal triplication 10.1
25 growth hormone deficiency 10.1
26 chondrodysplasia, blomstrand type 10.1 PTH GNAS
27 acrodysostosis 10.1 STX16 PTH GNAS
28 wilms tumor 5 10.1
29 scoliosis 10.1
30 tracheomalacia 10.1
31 inguinal hernia 10.1
32 hydrocephalus 10.1
33 learning disability 10.1
34 hypermobile ehlers-danlos syndrome 10.1
35 ring chromosome 2 10.1
36 hypotonia 10.1
37 ring chromosome 10.1
38 phosphorus metabolism disease 10.1 STX16 PTH GNAS
39 metal metabolism disorder 10.1 STX16 PTH GNAS
40 ossifying fibroma 10.1 PTH GNAS
41 hyperphosphatemia 10.1 STX16 PTH GNAS
42 dilated cardiomyopathy 10.0
43 charge syndrome 10.0
44 choanal atresia, posterior 10.0
45 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.0
46 bronchiectasis 10.0
47 hypothyroidism, congenital, nongoitrous, 1 9.9 STX16 PTH GNAS-AS1 GNAS
48 osseous heteroplasia, progressive 9.9 STX16 PTH GNAS-AS1 GNAS
49 umbilical hernia 9.9 WDR20 PLAGL1
50 enchondromatosis, multiple, ollier type 9.9 PTH GNAS

Graphical network of the top 20 diseases related to Chromosome 2q37 Deletion Syndrome:



Diseases related to Chromosome 2q37 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 2q37 Deletion Syndrome

Human phenotypes related to Chromosome 2q37 Deletion Syndrome:

58 31 (show top 50) (show all 74)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
4 round face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000311
5 midface retrusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0011800
6 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
7 umbilical hernia 58 31 frequent (33%) Frequent (79-30%) HP:0001537
8 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
9 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
10 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
11 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
12 wide intermamillary distance 58 31 frequent (33%) Frequent (79-30%) HP:0006610
13 obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001513
14 upslanted palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0000582
15 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
16 downturned corners of mouth 58 31 frequent (33%) Frequent (79-30%) HP:0002714
17 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
18 bilateral single transverse palmar creases 58 31 frequent (33%) Frequent (79-30%) HP:0007598
19 highly arched eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0002553
20 deeply set eye 58 31 frequent (33%) Frequent (79-30%) HP:0000490
21 sparse scalp hair 58 31 frequent (33%) Frequent (79-30%) HP:0002209
22 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
23 eczema 58 31 frequent (33%) Frequent (79-30%) HP:0000964
24 finger syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0006101
25 small hand 58 31 frequent (33%) Frequent (79-30%) HP:0200055
26 thin vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0000233
27 toe syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001770
28 underdeveloped nasal alae 58 31 frequent (33%) Frequent (79-30%) HP:0000430
29 short metacarpal 58 31 frequent (33%) Frequent (79-30%) HP:0010049
30 short foot 58 31 frequent (33%) Frequent (79-30%) HP:0001773
31 supernumerary nipple 58 31 frequent (33%) Frequent (79-30%) HP:0002558
32 short palm 58 31 frequent (33%) Frequent (79-30%) HP:0004279
33 broad columella 58 31 frequent (33%) Frequent (79-30%) HP:0010761
34 seizure 31 occasional (7.5%) HP:0001250
35 sparse and thin eyebrow 31 frequent (33%) HP:0000535
36 short neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000470
37 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
38 sleep disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002360
39 stereotypy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000733
40 autism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000717
41 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
42 conductive hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000405
43 obsessive-compulsive behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000722
44 laryngomalacia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001601
45 congenital diaphragmatic hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000776
46 pyloric stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002021
47 multicystic kidney dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000003
48 tracheomalacia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002779
49 nephroblastoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002667
50 abnormal aortic morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001679

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Nose:
depressed nasal bridge
broad nose
upturned nose

Head And Neck Head:
brachycephaly

Neurologic Behavioral Psychiatric Manifestations:
self-injurious behavior
aggressive behavior
hyperactivity
autistic features
repetitive behaviors

Neurologic Peripheral Nervous System:
hyporeflexia
pain insensitivity

Head And Neck Eyes:
high-arched eyebrows
deep-set eyes
narrow palpebral fissures
upslanting palpebral fissure

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

Cardiovascular Heart:
subvalvular aortic stenosis (1 patient)
arrhythmias (1 patient)

Skeletal Hands:
shortened metacarpals
shortened phalanges

Laboratory Abnormalities:
normal g(s)-alpha levels

Growth Height:
short stature

Growth Weight:
obesity

Skin Nails Hair Skin:
eczema

Head And Neck Face:
round face
broad face
midface hypoplasia
coarse facial appearance

Neurologic Central Nervous System:
mental retardation (in some patients)
developmental delay (in some patients)
seizures (1 patient)
sleeping disturbances (in some patients)
motor dyspraxia (in some patients)

Head And Neck Mouth:
full everted lips

Skeletal:
brachydactyly type e (in about 50% of patients)

Skeletal Feet:
shortened phalanges
shortened metatarsals
proximally placed fourth toe

Clinical features from OMIM:

600430

MGI Mouse Phenotypes related to Chromosome 2q37 Deletion Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 9.23 FARP2 GNAS HDAC4 MEST PLAGL1 PTH

Drugs & Therapeutics for Chromosome 2q37 Deletion Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phenotypic Characterization and Array CGH Analysis in Patients With Syndromic Obesity of Unknown Etiology Completed NCT01043198

Search NIH Clinical Center for Chromosome 2q37 Deletion Syndrome

Cochrane evidence based reviews: chromosome 2q37 deletion syndrome

Genetic Tests for Chromosome 2q37 Deletion Syndrome

Genetic tests related to Chromosome 2q37 Deletion Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 2q37 Deletion Syndrome 29 HDAC4
2 Brachydactyly-Mental Retardation Syndrome 29

Anatomical Context for Chromosome 2q37 Deletion Syndrome

MalaCards organs/tissues related to Chromosome 2q37 Deletion Syndrome:

40
Heart, Kidney, Brain, Eye, Bone, Skin

Publications for Chromosome 2q37 Deletion Syndrome

Articles related to Chromosome 2q37 Deletion Syndrome:

(show all 30)
# Title Authors PMID Year
1
Haploinsufficiency of HDAC4 does not cause intellectual disability in all affected individuals. 61 6 56
24715439 2014
2
Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4. 61 6 56
23188045 2013
3
Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. 56 6 61
20691407 2010
4
The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature. 56 61
25402011 2015
5
Neuropsychological profiles of patients with 2q37.3 deletion associated with developmental dyspraxia. 61 56
25329715 2014
6
Molecular delineation of deletions on 2q37.3 in three cases with an Albright hereditary osteodystrophy-like phenotype. 56 61
15521982 2004
7
Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay. 56
19752160 2010
8
2q37 Microdeletion Syndrome – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6
20301337 2007
9
Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes. 56
15173228 2004
10
Narrowing the candidate region of Albright hereditary osteodystrophy-like syndrome by deletion mapping in a patient with an unbalanced cryptic translocation t(2;6)(q37.3;q26). 56
12966529 2003
11
Albright hereditary osteodystrophy and del(2) (q37.3) in four unrelated individuals. 56
7573148 1995
12
Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37. 56
7847374 1995
13
The pattern of shortening of the bones of the hand in PHP and PPHP--A comparison with brachydactyly E, Turner Syndrome, and acrodysostosis. 56
870942 1977
14
Acrodysostosis coinciding with pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism. 56
188348 1977
15
Focal Xanthogranulomatous Pyelonephritis in Brachydactyly Mental Retardation Syndrome (2q37 Deletion Syndrome). 61
32341815 2020
16
Genotype and phenotype correlation in 103 individuals with 2q37 deletion syndrome reveals incomplete penetrance and supports HDAC4 as the primary genetic contributor. 61
30848064 2019
17
HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype. 61
30933954 2019
18
2q37 Deletions in Patients With an Albright Hereditary Osteodystrophy Phenotype and PTH Resistance. 61
31555217 2019
19
The clinical and molecular features of three Turkish patients with a rare genetic disorder: 2q37 deletion syndrome. 61
31990478 2019
20
Brachydactyly Mental Retardation Syndrome Diagnosed in Adulthood. 61
30357083 2018
21
Brachydactyly mental retardation syndrome with growth hormone deficiency. 61
30087780 2018
22
2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis. 61
28690993 2017
23
[Analysis of clinical phenotypes and genetic variations in a Chinese family affected with craniofacial and skeletal deformities]. 61
27984602 2016
24
Transcriptome analysis of genes and gene networks involved in aggressive behavior in mouse and zebrafish. 61
27090961 2016
25
Brachydactyly mental retardation syndrome in differential diagnosis of pseudopseudohypoparathyroidism. 61
23645122 2013
26
Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis. 61
23033274 2013
27
Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2. 61
22821680 2012
28
Dose dependent expression of HDAC4 causes variable expressivity in a novel inherited case of brachydactyly mental retardation syndrome. 61
22753018 2012
29
Histone deacetylase-4 is required during early cranial neural crest development for generation of the zebrafish palatal skeleton. 61
22676467 2012
30
FARP2, HDLBP and PASK are downregulated in a patient with autism and 2q37.3 deletion syndrome. 61
19365831 2009

Variations for Chromosome 2q37 Deletion Syndrome

ClinVar genetic disease variations for Chromosome 2q37 Deletion Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 subset of 59 genes: HDAC4 GRCh37/hg19 2q37.2-37.3(chr2:237028693-242708080)copy number loss Pathogenic 625779 2:237028693-242708080
2 subset of 46 genes: HDAC4 GRCh37/hg19 2q37.3(chr2:239071623-243048760)copy number loss Pathogenic 625781 2:239071623-243048760
3 subset of 51 genes: HDAC4 GRCh37/hg19 2q37.3(chr2:238795602-242918203)copy number loss Likely pathogenic 625780 2:238795602-242918203
4 HDAC4 NM_006037.3(HDAC4):c.2399dup (p.Gly801fs)duplication Uncertain significance 5069 2:240009284-240009285 2:239087588-239087589
5 HDAC4 HDAC4, 65-BP DEL, NT490+56deletion Uncertain significance 5070
6 HDAC4 NM_006037.3(HDAC4):c.155G>A (p.Arg52His)SNV Uncertain significance 518341 rs777568201 2:240111713-240111713 2:239190017-239190017
7 HDAC4 NM_006037.3(HDAC4):c.2356G>A (p.Ala786Thr)SNV Benign/Likely benign 283520 rs61754648 2:240011722-240011722 2:239090026-239090026
8 HDAC4 NM_006037.3(HDAC4):c.684G>A (p.Pro228=)SNV Benign 284218 rs144387989 2:240078397-240078397 2:239156701-239156701
9 HDAC4 NM_006037.3(HDAC4):c.1794G>A (p.Glu598=)SNV Benign 281400 rs148813865 2:240033391-240033391 2:239111695-239111695
10 HDAC4 NM_006037.3(HDAC4):c.95-98deldeletion Benign 801915 2:240111871-240111871 2:239190175-239190175

Copy number variations for Chromosome 2q37 Deletion Syndrome from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 142829 2 230700000 242951149 Microdeletion Brachydactyly-Mental Retardation Syndrome

Expression for Chromosome 2q37 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 2q37 Deletion Syndrome.

Pathways for Chromosome 2q37 Deletion Syndrome

Pathways related to Chromosome 2q37 Deletion Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.21 PTH GNAS

GO Terms for Chromosome 2q37 Deletion Syndrome

Biological processes related to Chromosome 2q37 Deletion Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of multicellular organism growth GO:0040015 9.16 RAI1 GNAS
2 response to parathyroid hormone GO:0071107 8.96 PTH GNAS
3 skeletal system development GO:0001501 8.92 RAI1 PTH HDAC4 GNAS

Sources for Chromosome 2q37 Deletion Syndrome

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11 DGIdb
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72 UMLS via Orphanet
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