AMDH
MCID: ACR009
MIFTS: 41

Acromesomelic Dysplasia, Hunter-Thompson Type (AMDH)

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

Aliases & Classifications for Acromesomelic Dysplasia, Hunter-Thompson Type

MalaCards integrated aliases for Acromesomelic Dysplasia, Hunter-Thompson Type:

Name: Acromesomelic Dysplasia, Hunter-Thompson Type 57 12 58 29 13 6 15 39
Acromesomelic Dwarfism 57 12 58
Amdh 57 72
Acromesomelic Chondrodysplasia, Hunter-Thompson Type 72
Acromesomelic Dysplasia Hunter Thompson Type 20
Acromesomelic Dysplasia Hunter-Thompson Type 70

Characteristics:

Orphanet epidemiological data:

58
acromesomelic dysplasia, hunter-thompson type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
allelic to grebe syndrome , brachydactyly, type c , fibular hypoplasia and complex brachydactyly


HPO:

31
acromesomelic dysplasia, hunter-thompson type:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0080051
OMIM® 57 201250
MeSH 44 D004392
ICD10 via Orphanet 33 Q78.8
UMLS via Orphanet 71 C2930970
Orphanet 58 ORPHA968
UMLS 70 C2930970

Summaries for Acromesomelic Dysplasia, Hunter-Thompson Type

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 968 Definition A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal.

MalaCards based summary : Acromesomelic Dysplasia, Hunter-Thompson Type, also known as acromesomelic dwarfism, is related to acromesomelic dysplasia, maroteaux type and acromesomelic dysplasia. An important gene associated with Acromesomelic Dysplasia, Hunter-Thompson Type is GDF5 (Growth Differentiation Factor 5), and among its related pathways/superpathways is TGF-beta signaling pathway (KEGG). Affiliated tissues include hand, foot and bone, and related phenotypes are neurological speech impairment and brachydactyly

Disease Ontology : 12 An acromesomelic dysplasia that has material basis in mutation in AMDH gene which results in normal axial skeleton but fused bones in the located in hand or located in foot.

OMIM® : 57 The Hunter-Thompson type of acromesomelic dysplasia is characterized by skeletal abnormalities restricted to the limbs; the craniofacial skeleton and axial skeletal structures are normal. The severity of the long bone shortening progresses in a proximal to distal direction. The hands and feet are most severely affected, but the distal phalanges are relative normal. Affected individuals have joint dislocations but the number of joints involved is not constant (summary by Thomas et al., 1996). (201250) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Acromesomelic chondrodysplasia, Hunter-Thompson type: An autosomal recessive form of dwarfism. Patients have limb abnormalities, with the middle and distal segments being most affected and the lower limbs more affected than the upper. AMDH is characterized by normal axial skeletons and missing or fused skeletal elements within the hands and feet.

Related Diseases for Acromesomelic Dysplasia, Hunter-Thompson Type

Diseases related to Acromesomelic Dysplasia, Hunter-Thompson Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 acromesomelic dysplasia, maroteaux type 31.9 NPR2 GDF5
2 acromesomelic dysplasia 31.4 NPR2 LOC109461476 GDF5-AS1 GDF5 BMPR1B
3 dwarfism 10.5
4 mesomelia 10.3
5 symphalangism, proximal, 1b 10.1 GDF5-AS1 GDF5
6 brachydactyly, type a1, c 10.0 GDF5-AS1 GDF5
7 klippel-feil syndrome 1 10.0 GDF5 BMPR1B
8 klippel-feil syndrome 10.0 MESP2 GDF5
9 sugarman brachydactyly 10.0 GDF5 BMPR1B
10 synostoses, tarsal, carpal, and digital 10.0 GDF5 BMPR1B
11 achondrogenesis, type ii 10.0 GDF5-AS1 GDF5
12 brachydactyly, type a1, b 10.0 GDF5 BMPR1B
13 multiple synostoses syndrome 2 9.9 LOC109461476 GDF5-AS1 GDF5
14 du pan syndrome 9.8 GDF5-AS1 GDF5 BMPR1B
15 proximal symphalangism 9.8 GDF5-AS1 GDF5 BMPR1B
16 brachydactyly, type c 9.8 GDF5-AS1 GDF5 BMPR1B
17 brachydactyly, type a1 9.8 GDF5-AS1 GDF5 BMPR1B
18 bone structure disease 9.8 MESP2 GDF5
19 brachydactyly, type a2 9.8 GDF5-AS1 GDF5 BMPR1B
20 acrocapitofemoral dysplasia 9.8 NPR2 GDF5
21 chromosome 2q35 duplication syndrome 9.7 GDF5 BMPR1B
22 dysostosis 9.7 MESP2 GDF5 EVC2
23 multiple synostoses syndrome 9.6 LOC109461476 GDF5-AS1 GDF5 BMPR1B
24 chondrodysplasia, grebe type 9.4 NPR2 GDF5-AS1 GDF5 BMPR1B
25 osteochondrodysplasia 9.4 NPR2 GDF5 EVC2
26 bone development disease 9.3 NPR2 MESP2 GDF5 EVC2
27 brachydactyly 9.2 NPR2 LOC109461476 GDF5-AS1 GDF5 BMPR1B

Graphical network of the top 20 diseases related to Acromesomelic Dysplasia, Hunter-Thompson Type:



Diseases related to Acromesomelic Dysplasia, Hunter-Thompson Type

Symptoms & Phenotypes for Acromesomelic Dysplasia, Hunter-Thompson Type

Human phenotypes related to Acromesomelic Dysplasia, Hunter-Thompson Type:

58 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neurological speech impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002167
2 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
3 bilateral single transverse palmar creases 58 31 hallmark (90%) Very frequent (99-80%) HP:0007598
4 abnormality of the ankles 58 31 hallmark (90%) Very frequent (99-80%) HP:0003028
5 short thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0009778
6 elbow dislocation 58 31 hallmark (90%) Very frequent (99-80%) HP:0003042
7 tarsal synostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008368
8 acromesomelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003086
9 severe short-limb dwarfism 58 31 hallmark (90%) Very frequent (99-80%) HP:0008890
10 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
11 joint stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0001387
12 cognitive impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100543
13 hip dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0002827
14 patellar dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0002999
15 cuboidal metacarpal 58 31 frequent (33%) Frequent (79-30%) HP:0006011
16 abnormally shaped carpal bones 58 31 frequent (33%) Frequent (79-30%) HP:0006014
17 abnormality of pelvic girdle bone morphology 58 Frequent (79-30%)
18 short metacarpal 58 Frequent (79-30%)
19 hypoplasia of the ulna 31 HP:0003022
20 short foot 31 HP:0001773
21 hypoplasia of the radius 31 HP:0002984
22 single transverse palmar crease 31 HP:0000954
23 fibular hypoplasia 31 HP:0003038
24 radial bowing 31 HP:0002986
25 short tibia 31 HP:0005736
26 shortening of all middle phalanges of the fingers 31 HP:0006110
27 distal femoral bowing 31 HP:0005096
28 shortening of all proximal phalanges of the fingers 31 HP:0006144

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Pelvis:
hip dislocation

Skeletal Hands:
abnormally shaped carpal bones
transverse palmar creases
short thumbs and fingers
nine carpal bones
short, cuboidal metacarpals
more
Skeletal Feet:
short feet
ball-shaped toes

Skeletal Limbs:
radial bowing
short tibia
acromesomelia
distal femoral bowing
short radius
more
Growth Height:
severe short-limb dwarfism

Skin Nails Hair Skin:
transverse palmar creases

Clinical features from OMIM®:

201250 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Acromesomelic Dysplasia, Hunter-Thompson Type:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.35 BMPR1B EVC2 GDF5 MESP2 NPR2
2 skeleton MP:0005390 9.02 BMPR1B EVC2 GDF5 MESP2 NPR2

Drugs & Therapeutics for Acromesomelic Dysplasia, Hunter-Thompson Type

Search Clinical Trials , NIH Clinical Center for Acromesomelic Dysplasia, Hunter-Thompson Type

Genetic Tests for Acromesomelic Dysplasia, Hunter-Thompson Type

Genetic tests related to Acromesomelic Dysplasia, Hunter-Thompson Type:

# Genetic test Affiliating Genes
1 Acromesomelic Dysplasia, Hunter-Thompson Type 29 GDF5

Anatomical Context for Acromesomelic Dysplasia, Hunter-Thompson Type

The Foundational Model of Anatomy Ontology organs/tissues related to Acromesomelic Dysplasia, Hunter-Thompson Type:

19
Hand, Foot

MalaCards organs/tissues related to Acromesomelic Dysplasia, Hunter-Thompson Type:

40
Bone

Publications for Acromesomelic Dysplasia, Hunter-Thompson Type

Articles related to Acromesomelic Dysplasia, Hunter-Thompson Type:

(show all 31)
# Title Authors PMID Year
1
A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type. 57 6 61
2703235 1989
2
A human chondrodysplasia due to a mutation in a TGF-beta superfamily member. 57 6
8589725 1996
3
Acromesomelic dwarfism: description of a patient and comparison with previously reported cases. 6 57
964999 1976
4
A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type. 6 61
29322508 2018
5
Ocular findings in acromesomelic dysplasia. 57
7977608 1994
6
Acromesomelic dysplasia. 57
7433666 1980
7
Acromesomelic dwarfism: manifestations in childhood. 57
610427 1977
8
Autosomal recessive inheritance in the mesomelic dwarfism of Campailla and Martinelli. 57
4850715 1974
9
[Statural deficiency with micromesomelia. Report of 2 familial cases]. 57
5111484 1971
10
In vivo and in vitro reconstitution of unique key steps in cystobactamid antibiotic biosynthesis. 61
33727542 2021
11
Generation of Oxidoreductases with Dual Alcohol Dehydrogenase and Amine Dehydrogenase Activity. 61
33073866 2021
12
Kinetic Resolution of Racemic Primary Amines Using Geobacillus stearothermophilus Amine Dehydrogenase Variant. 61
32802214 2020
13
Generation of amine dehydrogenases with increased catalytic performance and substrate scope from ε-deaminating L-Lysine dehydrogenase. 61
31420547 2019
14
Efficient synthesis of enantiopure amines from alcohols using resting E. coli cells and ammonia. 61
33628111 2019
15
Enhancing cofactor recycling in the bioconversion of racemic alcohols to chiral amines with alcohol dehydrogenase and amine dehydrogenase by coupling cells and cell-free system. 61
30536736 2019
16
Hydrogen-Borrowing Alcohol Bioamination with Coimmobilized Dehydrogenases. 61
29515675 2018
17
Amine dehydrogenases: efficient biocatalysts for the reductive amination of carbonyl compounds. 61
28663713 2017
18
Encapsulation of amine dehydrogenase in hybrid titania nanoparticles by polyethylenimine coating and templated biomineralization. 61
27838254 2017
19
A novel chimeric amine dehydrogenase shows altered substrate specificity compared to its parent enzymes. 61
25347124 2014
20
Genetic dissection of drought and heat tolerance in chickpea through genome-wide and candidate gene-based association mapping approaches. 61
24801366 2014
21
Serinol: small molecule - big impact. 61
21906364 2011
22
The silent form of quinohemoprotein amine dehydrogenase from Paracoccus denitrificans. 61
19270386 2009
23
A novel electrochemical approach to the characterization of oxidoreductase reactions. 61
15293339 2004
24
Ring substituted analogues of 5-aminomethyl-10,11-dihydro-dibenzo[a,d]cycloheptene (AMDH): potential modes of binding to the 5-HT(2A) receptor. 61
12852967 2003
25
The active site structure of quinohemoprotein amine dehydrogenase inhibited by p-nitrophenylhydrazine. 61
12686145 2003
26
Redox properties of quinohemoprotein amine dehydrogenase from Paracoccus denitrificans. 61
12686147 2003
27
Spectroelectrochemical evaluation of redox potentials of cysteine tryptophylquinone and two hemes c in quinohemoprotein amine dehydrogenase from Paracoccus denitrificans. 61
12427036 2002
28
New pathway of amine oxidation respiratory chain of Paracoccus denitrificans IFO 12442. 61
11168384 2001
29
Characterization of Quinohemoprotein Amine Dehydrogenase from Pseudomonas putida. 61
27315927 1998
30
Vitelline membrane biogenesis in Drosophila requires the activity of the alpha-methyl dopa hypersensitive gene (I(2)amd) in both the germline and follicle cells. 61
8269096 1993
31
Low allozyme variability in Bactrocera albistrigata (Insecta: Diptera: Tephritidae) from Peninsular Malaysia. 61
2147641 1990

Variations for Acromesomelic Dysplasia, Hunter-Thompson Type

ClinVar genetic disease variations for Acromesomelic Dysplasia, Hunter-Thompson Type:

6 (show all 42)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GDF5 GDF5, 22-BP DUP Duplication Pathogenic 8377 GRCh37:
GRCh38:
2 BMPR1B NM_001203.3(BMPR1B):c.1190T>G (p.Met397Arg) SNV Likely pathogenic 996696 GRCh37: 4:96070012-96070012
GRCh38: 4:95148861-95148861
3 GDF5 NM_000557.5(GDF5):c.57G>T (p.Leu19=) SNV Uncertain significance 897561 GRCh37: 20:34025652-34025652
GRCh38: 20:35437872-35437872
4 GDF5 NM_000557.5(GDF5):c.25T>C (p.Phe9Leu) SNV Uncertain significance 595155 rs373973964 GRCh37: 20:34025684-34025684
GRCh38: 20:35437904-35437904
5 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.*259G>C SNV Uncertain significance 895466 GRCh37: 20:34021448-34021448
GRCh38: 20:35433650-35433650
6 GDF5 NM_000557.5(GDF5):c.226G>T (p.Ala76Ser) SNV Uncertain significance 895672 GRCh37: 20:34025483-34025483
GRCh38: 20:35437703-35437703
7 LOC109461476 , GDF5 NM_000557.5(GDF5):c.-236G>A SNV Uncertain significance 898778 GRCh37: 20:34025944-34025944
GRCh38: 20:35438164-35438164
8 LOC109461476 , GDF5 NM_000557.5(GDF5):c.-220C>T SNV Uncertain significance 338327 rs886056643 GRCh37: 20:34025928-34025928
GRCh38: 20:35438148-35438148
9 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.1104C>T (p.Thr368=) SNV Uncertain significance 338317 rs748907807 GRCh37: 20:34022109-34022109
GRCh38: 20:35434311-35434311
10 GDF5 NM_000557.5(GDF5):c.168C>A (p.Asn56Lys) SNV Uncertain significance 338323 rs199666386 GRCh37: 20:34025541-34025541
GRCh38: 20:35437761-35437761
11 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.*166G>A SNV Uncertain significance 338315 rs569761315 GRCh37: 20:34021541-34021541
GRCh38: 20:35433743-35433743
12 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.1272C>G (p.Tyr424Ter) SNV Uncertain significance 816909 rs778394508 GRCh37: 20:34021941-34021941
GRCh38: 20:35434143-35434143
13 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.1067A>G (p.Asn356Ser) SNV Uncertain significance 895535 GRCh37: 20:34022146-34022146
GRCh38: 20:35434348-35434348
14 GDF5 NM_000557.5(GDF5):c.631+6G>A SNV Uncertain significance 895609 GRCh37: 20:34025072-34025072
GRCh38: 20:35437292-35437292
15 GDF5 NM_000557.5(GDF5):c.506C>A (p.Pro169His) SNV Uncertain significance 895610 GRCh37: 20:34025203-34025203
GRCh38: 20:35437423-35437423
16 GDF5 NM_000557.5(GDF5):c.206C>G (p.Ala69Gly) SNV Uncertain significance 895673 GRCh37: 20:34025503-34025503
GRCh38: 20:35437723-35437723
17 LOC109461476 , GDF5 NM_000557.5(GDF5):c.-97T>C SNV Uncertain significance 895743 GRCh37: 20:34025805-34025805
GRCh38: 20:35438025-35438025
18 LOC109461476 , GDF5 NM_000557.5(GDF5):c.-134C>G SNV Uncertain significance 896024 GRCh37: 20:34025842-34025842
GRCh38: 20:35438062-35438062
19 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.855C>T (p.Gly285=) SNV Uncertain significance 338320 rs149593773 GRCh37: 20:34022358-34022358
GRCh38: 20:35434560-35434560
20 GDF5 NM_000557.5(GDF5):c.182G>A (p.Gly61Glu) SNV Uncertain significance 897084 GRCh37: 20:34025527-34025527
GRCh38: 20:35437747-35437747
21 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.1374C>G (p.Pro458=) SNV Uncertain significance 896867 GRCh37: 20:34021839-34021839
GRCh38: 20:35434041-35434041
22 GDF5 NM_000557.5(GDF5):c.483G>A (p.Pro161=) SNV Uncertain significance 897014 GRCh37: 20:34025226-34025226
GRCh38: 20:35437446-35437446
23 GDF5 NM_000557.5(GDF5):c.462C>A (p.Pro154=) SNV Likely benign 193119 rs150686636 GRCh37: 20:34025247-34025247
GRCh38: 20:35437467-35437467
24 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.*520T>C SNV Likely benign 338309 rs188252641 GRCh37: 20:34021187-34021187
GRCh38: 20:35433389-35433389
25 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.1000C>G (p.Arg334Gly) SNV Likely benign 338318 rs140895068 GRCh37: 20:34022213-34022213
GRCh38: 20:35434415-35434415
26 GDF5 NM_000557.5(GDF5):c.652A>C (p.Arg218=) SNV Likely benign 284616 rs116467702 GRCh37: 20:34022561-34022561
GRCh38: 20:35434763-35434763
27 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.953G>C (p.Arg318Pro) SNV Likely benign 338319 rs201590447 GRCh37: 20:34022260-34022260
GRCh38: 20:35434462-35434462
28 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.*389C>T SNV Likely benign 338311 rs535023630 GRCh37: 20:34021318-34021318
GRCh38: 20:35433520-35433520
29 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.*387T>C SNV Likely benign 338312 rs553655935 GRCh37: 20:34021320-34021320
GRCh38: 20:35433522-35433522
30 LOC109461476 , GDF5 NM_000557.5(GDF5):c.-39C>T SNV Likely benign 338325 rs149907722 GRCh37: 20:34025747-34025747
GRCh38: 20:35437967-35437967
31 LOC109461476 , GDF5 NM_000557.5(GDF5):c.-275= SNV Benign 8390 rs143383 GRCh37: 20:34025983-34025983
GRCh38: 20:35438203-35438203
32 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.1128G>T (p.Gln376His) SNV Benign 338316 rs138130158 GRCh37: 20:34022085-34022085
GRCh38: 20:35434287-35434287
33 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.826= (p.Ala276=) SNV Benign 256716 rs224331 GRCh37: 20:34022387-34022387
GRCh38: 20:35434589-35434589
34 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.*335A>C SNV Benign 338313 rs73611720 GRCh37: 20:34021372-34021372
GRCh38: 20:35433574-35433574
35 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.*193G>T SNV Benign 338314 rs114832948 GRCh37: 20:34021514-34021514
GRCh38: 20:35433716-35433716
36 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.1017= (p.Lys339=) SNV Benign 256713 rs224330 GRCh37: 20:34022196-34022196
GRCh38: 20:35434398-35434398
37 LOC109461476 , GDF5 NM_000557.5(GDF5):c.-135G>A SNV Benign 338326 rs73094730 GRCh37: 20:34025843-34025843
GRCh38: 20:35438063-35438063
38 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.*425T>C SNV Benign 338310 rs56366915 GRCh37: 20:34021282-34021282
GRCh38: 20:35433484-35433484
39 LOC109461476 , GDF5 NM_000557.5(GDF5):c.-48= SNV Benign 256712 rs143384 GRCh37: 20:34025756-34025756
GRCh38: 20:35437976-35437976
40 GDF5 NM_000557.5(GDF5):c.497C>A (p.Pro166His) SNV Benign 338321 rs61754581 GRCh37: 20:34025212-34025212
GRCh38: 20:35437432-35437432
41 GDF5 NM_000557.5(GDF5):c.349G>T (p.Ala117Ser) SNV Benign 338322 rs151149144 GRCh37: 20:34025360-34025360
GRCh38: 20:35437580-35437580
42 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.*468G>A SNV Benign 895403 GRCh37: 20:34021239-34021239
GRCh38: 20:35433441-35433441

Expression for Acromesomelic Dysplasia, Hunter-Thompson Type

Search GEO for disease gene expression data for Acromesomelic Dysplasia, Hunter-Thompson Type.

Pathways for Acromesomelic Dysplasia, Hunter-Thompson Type

Pathways related to Acromesomelic Dysplasia, Hunter-Thompson Type according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.6 GDF5 BMPR1B

GO Terms for Acromesomelic Dysplasia, Hunter-Thompson Type

Biological processes related to Acromesomelic Dysplasia, Hunter-Thompson Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 BMP signaling pathway GO:0030509 9.26 GDF5 BMPR1B
2 cartilage development GO:0051216 9.16 GDF5 BMPR1B
3 positive regulation of chondrocyte differentiation GO:0032332 8.96 GDF5 BMPR1B
4 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 8.62 GDF5 BMPR1B

Sources for Acromesomelic Dysplasia, Hunter-Thompson Type

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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