ACFD
MCID: ACR002
MIFTS: 49

Acrocapitofemoral Dysplasia (ACFD)

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

Aliases & Classifications for Acrocapitofemoral Dysplasia

MalaCards integrated aliases for Acrocapitofemoral Dysplasia:

Name: Acrocapitofemoral Dysplasia 57 12 20 58 73 36 29 13 6 44 15 71
Acfd 57 20 73
Bone Diseases, Developmental 44
Dysplasia, Acrocapitofemoral 39

Characteristics:

Orphanet epidemiological data:

58
acrocapitofemoral dysplasia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
allelic to brachydactyly, type a1
cone-shaped epiphyses appear in early childhood and disappear with premature fusion of growth plate before puberty


HPO:

31
acrocapitofemoral dysplasia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Acrocapitofemoral Dysplasia

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 63446DefinitionA rare skeletal dysplasi, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.EpidemiologyIt has been described in 5 individuals in 2 families.Clinical descriptionAffected patients have normal intelligence. Radiographically, cone-shaped epiphyses are observed in the hands, the proximal part of the femur, and, to a variable degree, at the shoulders, knees, and ankles.EtiologyHomozygous mutations in the Indian hedgehog homolog gene (IHH; 2q33-q35), outside the region where brachydactyly type A-1 mutations are clustered, have been identified in affected patients.Genetic counselingThe condition is transmitted as an autosomal recessive trait.Visit the Orphanet disease page for more resources.

MalaCards based summary : Acrocapitofemoral Dysplasia, also known as acfd, is related to brachydactyly and brachydactyly, type a4. An important gene associated with Acrocapitofemoral Dysplasia is IHH (Indian Hedgehog Signaling Molecule), and among its related pathways/superpathways are Hedgehog signaling pathway and Presynaptic function of Kainate receptors. The drugs Ethinyl Estradiol and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include bone and heart, and related phenotypes are skeletal dysplasia and delayed skeletal maturation

Disease Ontology : 12 An osteochondrodysplasia characterized by skeletal dysplasia, bradydactyly and narrow thorax and has material basis in mutations in the Indian hedgehog homolog gene.

KEGG : 36 Acrocapitofemoral dysplasia is an autosomal recessive skeletal dysplasia characterized by short stature with brachydactyly, a narrow thorax, and a relatively large head. Radiographically, cone-shaped epiphyses are present in the hands and hips.

UniProtKB/Swiss-Prot : 73 Acrocapitofemoral dysplasia: An autosomal recessive disorder characterized by short stature of variable severity with postnatal onset. The most constant radiographic abnormalities are observed in the tubular bones of the hands and in the proximal part of the femur. Cone-shaped epiphyses or a similar epiphyseal configuration with premature epimetaphyseal fusion result in shortening of the skeletal components involved. Cone-shaped epiphyses are also present to a variable extent at the shoulders, knees and ankles.

More information from OMIM: 607778

Related Diseases for Acrocapitofemoral Dysplasia

Diseases related to Acrocapitofemoral Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 brachydactyly 29.0 SHH NPR2 IHH GDF5 ADAMTS17
2 brachydactyly, type a4 10.2 IHH GDF5
3 sugarman brachydactyly 10.2 IHH GDF5
4 brachydactyly, type a1, b 10.2 IHH GDF5
5 brachydactyly, type b1 10.2 IHH GDF5
6 short stature with nonspecific skeletal abnormalities 10.1 NPR2 IHH
7 cartilage disease 10.1 IHH GDF5
8 nivelon-nivelon-mabille syndrome 10.1 WWC3 IHH
9 du pan syndrome 10.1 IHH GDF5
10 cholera 10.1
11 proximal symphalangism 10.1 IHH GDF5
12 metaphyseal chondrodysplasia, jansen type 10.1 PTH1R IHH
13 metachondromatosis 10.1 PTH1R IHH
14 chondrodysplasia, blomstrand type 10.1 PTH1R IHH
15 acromesomelic dysplasia, hunter-thompson type 10.1 NPR2 GDF5
16 acromesomelic dysplasia 10.1 NPR2 GDF5
17 multiple enchondromatosis, maffucci type 10.1 PTH1R IHH
18 autosomal recessive disease 10.1
19 chondrodysplasia, grebe type 10.0 NPR2 GDF5
20 exostosis 10.0 IHH GDF5
21 enchondromatosis, multiple, ollier type 10.0 PTH1R IHH
22 acromesomelic dysplasia, maroteaux type 10.0 NPR2 GDF5
23 hypochondroplasia 10.0 NPR2 IHH
24 brachydactyly, type a2 10.0 IHH GDF5
25 pancreas, annular 9.9 SHH IHH
26 culler-jones syndrome 9.9 SHH IHH
27 thanatophoric dysplasia, type i 9.9 PTH1R NPR2 IHH
28 holoprosencephaly 7 9.8 SHH IHH DHH
29 holoprosencephaly 9.8 SHH IHH DHH
30 tumoral calcinosis, hyperphosphatemic, familial, 1 9.8 SHH IHH DHH
31 infratentorial cancer 9.8 SHH IHH DHH
32 basal cell nevus syndrome 9.8 SHH IHH DHH
33 acrocallosal syndrome 9.8 SHH IHH
34 synostosis 9.8 SHH IHH GDF5
35 chromosome 2q35 duplication syndrome 9.7 SHH IHH GDF5
36 crouzon syndrome 9.5 SHH NPR2
37 brachydactyly, type a1 9.3 SHH PTH1R IHH GDF5 DHH
38 bone development disease 9.2 SHH PTH1R NPR2 IHH GDF5
39 odontochondrodysplasia 9.2 SHH PTH1R NPR2 IHH GDF5

Graphical network of the top 20 diseases related to Acrocapitofemoral Dysplasia:



Diseases related to Acrocapitofemoral Dysplasia

Symptoms & Phenotypes for Acrocapitofemoral Dysplasia

Human phenotypes related to Acrocapitofemoral Dysplasia:

58 31 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002652
2 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
3 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
4 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
5 coxa vara 58 31 hallmark (90%) Very frequent (99-80%) HP:0002812
6 short palm 58 31 hallmark (90%) Very frequent (99-80%) HP:0004279
7 hyperlordosis 58 31 frequent (33%) Frequent (79-30%) HP:0003307
8 ovoid vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0003300
9 genu varum 58 31 frequent (33%) Frequent (79-30%) HP:0002970
10 broad nail 58 31 frequent (33%) Frequent (79-30%) HP:0001821
11 small nail 58 31 frequent (33%) Frequent (79-30%) HP:0001792
12 flared iliac wings 58 31 frequent (33%) Frequent (79-30%) HP:0002869
13 cone-shaped metacarpal epiphyses 58 31 frequent (33%) Frequent (79-30%) HP:0006059
14 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
15 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
16 pectus carinatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000768
17 short thorax 58 31 occasional (7.5%) Occasional (29-5%) HP:0010306
18 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
19 narrow chest 58 31 occasional (7.5%) Occasional (29-5%) HP:0000774
20 enlargement of the distal femoral epiphysis 31 HP:0006438
21 brachydactyly 31 HP:0001156
22 short distal phalanx of finger 31 HP:0009882
23 short metacarpal 31 HP:0010049
24 hypoplasia of the ulna 31 HP:0003022
25 cone-shaped epiphysis 58 Very frequent (99-80%)
26 disproportionate short-limb short stature 31 HP:0008873
27 hypoplasia of the radius 31 HP:0002984
28 disproportionate short stature 31 HP:0003498
29 relative macrocephaly 31 HP:0004482
30 short tibia 31 HP:0005736
31 short humerus 31 HP:0005792
32 short ribs 31 HP:0000773
33 short femur 31 HP:0003097
34 hypoplastic iliac wing 31 HP:0002866
35 abnormality of the femoral neck 58 Very frequent (99-80%)
36 short femoral neck 31 HP:0100864
37 lumbar hyperlordosis 31 HP:0002938
38 cupped ribs 31 HP:0000887
39 delayed ossification of carpal bones 31 HP:0001216
40 short proximal phalanx of finger 31 HP:0010241
41 dysplasia of the femoral head 31 HP:0010575
42 short proximal phalanx of thumb 31 HP:0009638
43 cone-shaped capital femoral epiphysis 31 HP:0008789
44 fibular overgrowth 31 HP:0003099
45 cone-shaped epiphysis of the 1st metacarpal 31 HP:0010017
46 small finger 31 HP:0030033

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum
pectus excavatum
rib cupping

Skeletal Hands:
brachydactyly
short hands
delayed carpal bone age
cone-shaped epiphyses (metacarpals, thumbs, middle and distal phalanges)
short middle and distal phalanges

Skeletal Pelvis:
coxa vara
short femoral neck
cone-shaped epiphyses (proximal femur)
egg-shaped femoral head
short, flared iliac wings

Neurologic Central Nervous System:
normal intelligence

Skin Nails Hair Nails:
broad fingernails
small finger nails

Skeletal Feet:
cone-shaped epiphyses (ankles)

Skeletal Spine:
ovoid vertebral bodies
lumbar hyperlordosis
anterior notching of vertebral bodies

Skeletal Limbs:
genu varum
short limbs
cone-shaped epiphyses (proximal and distal tibia)
varus deformity (humeral head)
large distal femoral epiphyses

Growth Height:
normal birth length
short-limbed dwarfism
short stature, disproportionate

Chest External Features:
narrow thorax

Head And Neck Head:
relatively large head

Clinical features from OMIM®:

607778 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Acrocapitofemoral Dysplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.55 ADAMTS17 IHH NPR2 PTH1R SHH
2 digestive/alimentary MP:0005381 9.35 DHH IHH NPR2 PTH1R SHH
3 limbs/digits/tail MP:0005371 9.1 ADAMTS17 GDF5 IHH NPR2 PTH1R SHH

Drugs & Therapeutics for Acrocapitofemoral Dysplasia

Drugs for Acrocapitofemoral Dysplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
2
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
3
Etonogestrel Approved, Investigational Phase 4 54048-10-1 40976 6917715
4
Desogestrel Approved Phase 4 54024-22-5 40973
5
Polyestradiol phosphate Approved Phase 4 28014-46-2
6 Contraceptive Agents Phase 4
7 Estradiol 3-benzoate Phase 4
8 Contraceptives, Oral, Combined Phase 4
9 Contraceptives, Oral Phase 4
10 Calcium, Dietary Phase 4
11 Estradiol 17 beta-cypionate Phase 4
12
Calcium Nutraceutical Phase 4 7440-70-2 271

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Effect of Oral vs. Non-oral Contraceptive Therapy on Bone Turnover Using 41Ca Methodology Active, not recruiting NCT02367846 Phase 4 Combined Oral Contraceptive (COC);Contraceptive Vaginal Ring (CVR)
2 COMBAT 1: COMputerised Bone Age Tool (Phase 1: Feasibility of Using Dual Energy X-ray Absorptiometry for Bone Age Assessment in Children) Completed NCT02617901
3 Clinical and Molecular Manifestations of Human Skeletal Dysplasias and Short Stature Completed NCT00001754
4 Bone Mass Accrual in Children With Autism Spectrum Disorder Completed NCT03162445
5 Development of a New Simplified Thumb Ossification Composite Index (TOCI) and Its Application to Predict Skeletal Maturity and Curve Progression in Idiopathic Scoliosis and Normal Subjects Recruiting NCT03904914
6 Osteofibrous Dysplasia (Kempson-Campanacci's Disease): Long Term Follow-up Study on Natural History, Results of Treatment and Relationship With Adamantinoma Recruiting NCT04104763

Search NIH Clinical Center for Acrocapitofemoral Dysplasia

Cochrane evidence based reviews: bone diseases, developmental

Genetic Tests for Acrocapitofemoral Dysplasia

Genetic tests related to Acrocapitofemoral Dysplasia:

# Genetic test Affiliating Genes
1 Acrocapitofemoral Dysplasia 29 IHH

Anatomical Context for Acrocapitofemoral Dysplasia

MalaCards organs/tissues related to Acrocapitofemoral Dysplasia:

40
Bone, Heart

Publications for Acrocapitofemoral Dysplasia

Articles related to Acrocapitofemoral Dysplasia:

(show all 36)
# Title Authors PMID Year
1
Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips. 6 57 61
12632327 2003
2
Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips. 57 61
12624140 2003
3
Toward chemical accuracy at low computational cost: Density-functional theory with σ-functionals for the correlation energy. 61
33412877 2021
4
Lieb-Oxford bound and pair correlation functions for density-functional methods based on the adiabatic-connection fluctuation-dissipation theorem. 61
32935700 2020
5
The compatibility effects of sini decoction against doxorubicin-induced heart failure in rats revealed by mass spectrometry-based serum metabolite profiling and computational analysis. 61
32006632 2020
6
Enhanced "contact mechanism" for interaction of extracellular polymeric substances with low-grade copper-bearing sulfide ore in bioleaching by moderately thermophilic Acidithiobacillus caldus. 61
31026798 2019
7
Simultaneous Attenuation of Both Self-Interaction Error and Nondynamic Correlation Error in Density Functional Theory: A Spin-Pair Distinctive Adiabatic-Connection Approximation. 61
31046289 2019
8
Association of Canadian Faculties of Dentistry Educational Framework for the Development of Competency in Dental Programs. 61
30936212 2019
9
Comparing Practice Management Courses in Canadian Dental Schools. 61
29717074 2018
10
First-Principles Models for van der Waals Interactions in Molecules and Materials: Concepts, Theory, and Applications. 61
28272886 2017
11
Accurate Intermolecular Potential for the C60 Dimer: The Performance of Different Levels of Quantum Theory. 61
27959551 2017
12
Power Series Approximation for the Correlation Kernel Leading to Kohn-Sham Methods Combining Accuracy, Computational Efficiency, and General Applicability. 61
27740821 2016
13
Molecular and Genomic Characterization of Vibrio mimicus Isolated from a Frozen Shrimp Processing Facility in Mexico. 61
26730584 2016
14
Self-consistent Kohn-Sham method based on the adiabatic-connection fluctuation-dissipation theorem and the exact-exchange kernel. 61
26133411 2015
15
Bicarbonate increases binding affinity of Vibrio cholerae ToxT to virulence gene promoters. 61
25182489 2014
16
Stability conditions for exact-exchange Kohn-Sham methods and their relation to correlation energies from the adiabatic-connection fluctuation-dissipation theorem. 61
25429933 2014
17
Grimontia indica AK16(T), sp. nov., isolated from a seawater sample reports the presence of pathogenic genes similar to Vibrio genus. 61
24465608 2014
18
On the Short-Range Behavior of Correlated Pair Functions from the Adiabatic-Connection Fluctuation-Dissipation Theorem of Density-Functional Theory. 61
26589155 2013
19
Interatomic methods for the dispersion energy derived from the adiabatic connection fluctuation-dissipation theorem. 61
23444996 2013
20
Electron affinities and ionisation potentials for atoms via "benchmark" tdDFT calculations with and without exchange kernels. 61
23298030 2013
21
Communication: Beyond the random phase approximation on the cheap: improved correlation energies with the efficient "radial exchange hole" kernel. 61
22998242 2012
22
Poster - Thur Eve - 07: CNSC Update: "What's New in Class II". 61
28516523 2012
23
Assessing graduating dental students' competencies: the impact of classroom, clinic and externships learning experiences. 61
21762318 2011
24
Stand-alone cervical polyetheretherketone (PEEK) cage (cervios) for single to two-level degenerative disc disease. 61
21534365 2011
25
Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog. 61
19277064 2009
26
Importation of the major pilin TcpA gene and frequent recombination drive the divergence of the Vibrio pathogenicity island in Vibrio cholerae. 61
19054108 2008
27
Use of resorbable implants for symptomatic cervical spondylosis: experience on 16 consecutive patients. 61
18176526 2007
28
The toxbox: specific DNA sequence requirements for activation of Vibrio cholerae virulence genes by ToxT. 61
16553883 2006
29
Vibrio cholerae ToxT independently activates the divergently transcribed aldA and tagA genes. 61
16291662 2005
30
Activation of both acfA and acfD transcription by Vibrio cholerae ToxT requires binding to two centrally located DNA sites in an inverted repeat conformation. 61
15853890 2005
31
Serum total and lipid-bound sialic acid levels following acute myocardial infarction. 61
11205689 2000
32
Sequence analysis of the Vibrio cholerae acfD gene reveals the presence of an overlapping reading frame, orfZ, which encodes a protein that shares sequence similarity to the FliA and FliC products of Salmonella. 61
8063108 1994
33
Structural analysis of the acfA and acfD genes of Vibrio cholerae: effects of DNA topology and transcriptional activators on expression. 61
1644747 1992
34
ToxR regulates the production of lipoproteins and the expression of serum resistance in Vibrio cholerae. 61
2000374 1991
35
No ostriches in sight. Just an octopus. An ACFD/AFDC position paper pursuant to the manpower and prelicensure conferences. 61
3545398 1987
36
ACFD supports concept of consumer involvement in accreditation process. 61
1058199 1975

Variations for Acrocapitofemoral Dysplasia

ClinVar genetic disease variations for Acrocapitofemoral Dysplasia:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IHH NM_002181.4(IHH):c.137C>T (p.Pro46Leu) SNV Pathogenic 8870 rs121917856 2:219925053-219925053 2:219060331-219060331
2 IHH NM_002181.4(IHH):c.569T>C (p.Val190Ala) SNV Pathogenic 8871 rs121917857 2:219922163-219922163 2:219057441-219057441
3 IHH NM_002181.4(IHH):c.352G>A (p.Val118Met) SNV Likely pathogenic 800918 rs1454141074 2:219922380-219922380 2:219057658-219057658
4 IHH NM_002181.4(IHH):c.53_78delinsGGGCC (p.Leu18_Trp26delinsArgAla) Indel Uncertain significance 800998 rs1574689480 2:219925112-219925137 2:219060390-219060415

UniProtKB/Swiss-Prot genetic disease variations for Acrocapitofemoral Dysplasia:

73
# Symbol AA change Variation ID SNP ID
1 IHH p.Pro46Leu VAR_015981 rs121917856
2 IHH p.Val190Ala VAR_015986 rs121917857

Expression for Acrocapitofemoral Dysplasia

Search GEO for disease gene expression data for Acrocapitofemoral Dysplasia.

Pathways for Acrocapitofemoral Dysplasia

Pathways related to Acrocapitofemoral Dysplasia according to KEGG:

36
# Name Kegg Source Accession
1 Hedgehog signaling pathway hsa04340

GO Terms for Acrocapitofemoral Dysplasia

Cellular components related to Acrocapitofemoral Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.56 SHH RHEBL1 PTH1R NPR2 LMBR1L IHH
2 extracellular matrix GO:0031012 8.8 SHH IHH ADAMTS17

Biological processes related to Acrocapitofemoral Dysplasia according to GeneCards Suite gene sharing:

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.91 SHH IHH DHH ADAMTS17
2 ossification GO:0001503 9.67 PTH1R NPR2 IHH
3 negative regulation of cell differentiation GO:0045596 9.63 SHH IHH
4 pattern specification process GO:0007389 9.63 SHH IHH
5 embryonic digit morphogenesis GO:0042733 9.62 SHH IHH
6 embryonic limb morphogenesis GO:0030326 9.62 SHH GDF5
7 cell-cell signaling GO:0007267 9.62 SHH IHH GDF5 DHH
8 cell maturation GO:0048469 9.61 PTH1R IHH
9 positive regulation of smoothened signaling pathway GO:0045880 9.6 SHH IHH
10 branching involved in blood vessel morphogenesis GO:0001569 9.59 SHH IHH
11 pancreas development GO:0031016 9.58 SHH IHH
12 embryonic pattern specification GO:0009880 9.58 SHH IHH
13 vasculature development GO:0001944 9.57 SHH IHH
14 bone resorption GO:0045453 9.56 PTH1R IHH
15 positive regulation of mesenchymal cell proliferation GO:0002053 9.55 SHH IHH
16 osteoblast development GO:0002076 9.54 SHH PTH1R
17 smoothened signaling pathway GO:0007224 9.54 SHH IHH DHH
18 somite development GO:0061053 9.52 SHH IHH
19 embryonic digestive tract morphogenesis GO:0048557 9.51 SHH IHH
20 smooth muscle tissue development GO:0048745 9.48 SHH IHH
21 positive regulation of alpha-beta T cell differentiation GO:0046638 9.46 SHH IHH
22 positive regulation of T cell differentiation in thymus GO:0033089 9.43 SHH IHH
23 negative regulation of mesenchymal cell apoptotic process GO:2001054 9.4 SHH GDF5
24 cell fate specification GO:0001708 9.33 SHH IHH DHH
25 negative regulation of alpha-beta T cell differentiation GO:0046639 9.26 SHH IHH
26 intein-mediated protein splicing GO:0016539 8.96 SHH IHH
27 protein autoprocessing GO:0016540 8.8 SHH IHH DHH

Molecular functions related to Acrocapitofemoral Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.26 SHH IHH DHH ADAMTS17
2 peptide hormone binding GO:0017046 9.16 PTH1R NPR2
3 patched binding GO:0005113 8.8 SHH IHH DHH

Sources for Acrocapitofemoral Dysplasia

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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