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MCID: THN009
MIFTS: 67

Thanatophoric Dysplasia, Type I

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Thanatophoric Dysplasia, Type I

About this section

MalaCards integrated aliases for Thanatophoric Dysplasia, Type I:

Name: Thanatophoric Dysplasia, Type I 57 13 73
Thanatophoric Dysplasia 57 12 76 24 53 25 59 37 55 44 15
Thanatophoric Dwarfism 57 53 25 59 75
Thanatophoric Dysplasia Type 1 53 59 29 6
Td1 57 59 75
Thanatophoric Dysplasia Type I 53 75
Td 57 59
Lethal Short-Limbed Platyspondylic Dwarfism, San Diego Type 57
Lethal Short-Limbed Platyspondylic Dwarfism San Diego Type 75
Platyspondylic Lethal Skeletal Dysplasia, San Diego Type 57
Platyspondylic Lethal Skeletal Dysplasia San Diego Type 75
Dysplasia, Thanatophoric, Type I 40
Thanatophoric Dwarfism Type 1 59
Thanatophoric Dysplasia; Td 57
Thanatophoric Short Stature 25
Thanatophoric Dysplasia 1 75
Thanatophoric Dwarfism 1 53
Dwarfism Thanatophoric 53
Dwarf, Thanatophoric 25

Characteristics:

Orphanet epidemiological data:

59
thanatophoric dysplasia
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: early childhood;
thanatophoric dysplasia type 1
Inheritance: Autosomal dominant,Not applicable; Age of onset: Antenatal,Neonatal; Age of death: stillbirth;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
death in majority of infants soon after birth


HPO:

32
thanatophoric dysplasia, type i:
Mortality/Aging neonatal death
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare bone diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Thanatophoric Dysplasia, Type I

About this section
NIH Rare Diseases : 53 Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra skin on the arms and legs. Other features of this condition include a narrow chest, short ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes. Most infants with thanatophoric dysplasia are stillborn or die shortly after birth from respiratory failure. A few affected individuals have survived into childhood with extensive medical help. Thanatophoric dysplasia is caused by mutations in the FGFR3 gene. While this condition is considered to beĀ autosomal dominant, virtually all cases have occurred in people with no history of the disorder in their family.Two major forms of thanatophoric dysplasia have been described, type I and type II. Type I thanatophoric dysplasia is distinguished by the presence of curved thigh bones and flattened bones of the spine (platyspondyly). Type II thanatophoric dysplasia is characterized by straight thigh bones and a moderate to severe skull abnormality called a cloverleaf skull.

MalaCards based summary : Thanatophoric Dysplasia, Type I, also known as thanatophoric dysplasia, is related to thanatophoric dysplasia, type ii and hypochondroplasia. An important gene associated with Thanatophoric Dysplasia, Type I is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are Apoptotic Pathways in Synovial Fibroblasts and ERK Signaling. The drugs Vaccines and Ustekinumab have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and lung, and related phenotypes are macrocephaly and low-set ears

Disease Ontology : 12 An osteochondrodysplasia that results in short arms and legs with excess folds of skin.

Genetics Home Reference : 25 Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra (redundant) skin on the arms and legs. Other features of this condition include a narrow chest, short ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes.

OMIM : 57 Thanatophoric dysplasia is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. Norman et al. (1992) classified cases of TD into subtypes based on the presence of curved as opposed to straight femurs; patients with straight, relatively long femurs always had associated severe cloverleaf skull and were designated TD type II (TD2), while TD cases with curved, short femurs with or without cloverleaf skull were designated TD type I (TD1) (Langer et al., 1987). (187600)

UniProtKB/Swiss-Prot : 75 Thanatophoric dysplasia 1: A neonatal lethal skeletal dysplasia. Affected individuals manifest severe shortening of the limbs with macrocephaly, narrow thorax, short ribs, and curved femurs.

Wikipedia : 76 Thanatophoric dysplasia (thanatophoric dwarfism) is a severe skeletal disorder characterized by a... more...

GeneReviews:
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Related Diseases for Thanatophoric Dysplasia, Type I

About this section

Diseases in the Thanatophoric Dysplasia, Type I family:

Thanatophoric Dysplasia, Type Ii

Diseases related to Thanatophoric Dysplasia, Type I via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
# Related Disease Score Top Affiliating Genes
1 thanatophoric dysplasia, type ii 32.4 FGFR3 STAT1
2 hypochondroplasia 29.9 FGFR1 FGFR2 FGFR3
3 skeletal dysplasias 29.7 COMP FGFR3 PTH1R
4 achondroplasia 28.2 COMP FGFR1 FGFR2 FGFR3 PTH1R
5 hemifacial hyperplasia 10.6 FGFR2 FGFR3
6 type i 10.6
7 luteoma 10.6 FGFR2 FGFR3
8 beare-stevenson cutis gyrata syndrome 10.6 FGFR2 FGFR3
9 hypertropia 10.5 FGFR2 FGFR3
10 exophthalmos 10.5 FGFR2 FGFR3
11 atelosteogenesis 10.4 COMP FGFR3
12 radioulnar synostosis 10.3 FGFR1 FGFR2
13 synovial chondromatosis 10.3 FGFR1 FGFR3
14 deafness, autosomal recessive 51 10.3 FGF8 FGFR3
15 antley-bixler syndrome 10.2 FGFR1 FGFR2
16 metaphyseal chondrodysplasia, jansen type 10.2 FGFR3 PTH1R
17 chondromyxoid fibroma 10.2 FGFR3 PTH1R
18 osteochondroma 10.1 FGFR1 FGFR3
19 giant cell glioblastoma 10.1 FGFR1 FGFR3
20 spondyloepiphyseal dysplasia congenita 10.1 COMP FGFR3
21 plagiocephaly 10.0 FGFR1 FGFR2 FGFR3
22 hartsfield syndrome 10.0 FGF8 FGFR1
23 osteoglophonic dysplasia 10.0 FGFR1 FGFR2 FGFR3
24 acanthosis nigricans 10.0 FGFR2 FGFR3
25 jackson-weiss syndrome 10.0 FGFR1 FGFR2 FGFR3
26 apert syndrome 10.0 FGFR1 FGFR2 FGFR3
27 synostosis 10.0 FGFR1 FGFR2 FGFR3
28 lobar holoprosencephaly 10.0 FGF8 FGFR1
29 bone disease 10.0 FGFR2 FGFR3 PTH1R
30 microform holoprosencephaly 10.0 FGF8 FGFR1
31 lung squamous cell carcinoma 10.0 FGFR1 FGFR2 FGFR3
32 normosmic congenital hypogonadotropic hypogonadism 9.9 FGF8 FGFR1
33 renal dysplasia 9.9
34 semilobar holoprosencephaly 9.9 FGF8 FGFR1
35 dwarfism 9.9
36 chondroblastoma 9.8 FGFR1 FGFR3 PTH1R
37 chromosome 2q35 duplication syndrome 9.8 FGFR2 FGFR3
38 leukemia, chronic myeloid 9.8 CBL FGFR1 STAT1
39 adenocarcinoma 9.8 FGFR1 FGFR2 FGFR3
40 thrombocytopenia-absent radius syndrome 9.7 FGF8 FGFR1
41 orofacial cleft 9.6 FGF8 FGFR1 FGFR2
42 saethre-chotzen syndrome 9.6 CBL FGFR1 FGFR2 FGFR3
43 charge syndrome 9.6 FGF8 FGFR1
44 bone development disease 9.5 COMP FGFR1 FGFR2 FGFR3
45 lacrimoauriculodentodigital syndrome 9.3 FGF8 FGFR1 FGFR2 FGFR3
46 pfeiffer syndrome 9.3 FGF8 FGFR1 FGFR2 FGFR3
47 craniosynostosis 9.3 FGF8 FGFR1 FGFR2 FGFR3
48 crouzon syndrome 9.1 FGF13 FGFR1 FGFR2 FGFR3
49 muenke syndrome 8.3 FGF13 FGF8 FGFR1 FGFR2 FGFR3

Graphical network of the top 20 diseases related to Thanatophoric Dysplasia, Type I:



Diseases related to Thanatophoric Dysplasia, Type I
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Symptoms & Phenotypes for Thanatophoric Dysplasia, Type I

About this section

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly
frontal bossing

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Head And Neck Face:
small face

Prenatal Manifestations Movement:
decreased fetal activity

Growth Other:
severe growth deficiency in survivors

Skeletal Skull:
small foramen magnum
cloverleaf skull rarely

Skeletal Pelvis:
short and small iliac bones
small sacroiliac notches

Prenatal Manifestations:
prenatal diagnosis by ultrasound

Neurologic Central Nervous System:
hydrocephalus
temporal lobe heterotopias
profound mental retardation and hypotonia in survivors

Chest Ribs Sternum Clavicles And Scapulae:
small abnormally formed scapulae
short ribs
wide-cupped costochondral junctions

Chest External Features:
narrow thorax

Growth Height:
dwarfism, lethal micromelic

Respiratory Lung:
respiratory insufficiency/failure

Skeletal Spine:
severe platyspondyly

Skeletal Limbs:
marked shortness and bowing of long bones
'french telephone receiver femurs'
flared and irregular metaphyses


Clinical features from OMIM:

187600

Human phenotypes related to Thanatophoric Dysplasia, Type I:

59 32 (show top 50) (show all 63)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000256
2 low-set ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000369
3 frontal bossing 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002007
4 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000238
5 seizures 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001250
6 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001252
7 respiratory insufficiency 59 32 hallmark (90%) Occasional (29-5%),Very frequent (99-80%) HP:0002093
8 kyphosis 59 32 frequent (33%) Occasional (29-5%),Frequent (79-30%) HP:0002808
9 hearing impairment 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000365
10 hip dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001385
11 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002652
12 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0005280
13 bowing of the long bones 59 32 Very frequent (99-80%) HP:0006487
14 joint stiffness 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001387
15 acanthosis nigricans 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000956
16 cloverleaf skull 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002676
17 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000944
18 narrow chest 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000774
19 platyspondyly 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000926
20 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001643
21 micromelia 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002983
22 joint hyperflexibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0005692
23 short thorax 59 32 hallmark (90%) Very frequent (99-80%) HP:0010306
24 flat face 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0012368
25 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
26 atrial septal defect 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001631
27 ventriculomegaly 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002119
28 abnormality of the kidney 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000077
29 downslanted palpebral fissures 59 32 occasional (7.5%) Occasional (29-5%) HP:0000494
30 brachydactyly 59 32 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0001156
31 polyhydramnios 59 32 frequent (33%) Occasional (29-5%),Frequent (79-30%) HP:0001561
32 intellectual disability, profound 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002187
33 split hand 59 32 hallmark (90%) Very frequent (99-80%) HP:0001171
34 redundant skin 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001582
35 increased nuchal translucency 59 32 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0010880
36 disproportionate short-limb short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0008873
37 midface retrusion 59 32 frequent (33%) Frequent (79-30%) HP:0011800
38 wide anterior fontanel 59 32 frequent (33%) Frequent (79-30%) HP:0000260
39 proptosis 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000520
40 aplasia/hypoplasia of the lungs 59 32 frequent (33%) Frequent (79-30%) HP:0006703
41 pulmonary hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002089
42 heterotopia 59 32 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0002282
43 abnormality of the sacroiliac joint 59 32 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0100781
44 femoral bowing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002980
45 excessive wrinkled skin 59 32 frequent (33%) Frequent (79-30%) HP:0007392
46 hypoplastic ilia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000946
47 short femur 59 32 hallmark (90%) Very frequent (99-80%) HP:0003097
48 short sacroiliac notch 59 32 hallmark (90%) Very frequent (99-80%) HP:0003185
49 lethal short-limbed short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0008909
50 global developmental delay 32 HP:0001263

MGI Mouse Phenotypes related to Thanatophoric Dysplasia, Type I:

46 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.24 COMP FGFR1 FGF13 CBL FGF8 STAT1
2 cellular MP:0005384 10.17 CBL FGF8 COMP FGFR1 FGF13 FGFR3
3 growth/size/body region MP:0005378 10.13 CBL FGF8 COMP FGFR3 STAT1 FGFR2
4 cardiovascular system MP:0005385 10.12 CBL FGF8 COMP STAT1 FGFR2 PTH1R
5 homeostasis/metabolism MP:0005376 10.08 CBL FGF8 COMP FGFR1 FGFR3 STAT1
6 immune system MP:0005387 10.06 CBL FGF8 COMP FGFR1 FGFR3 STAT1
7 hematopoietic system MP:0005397 10.04 CBL FGF8 FGFR1 FGFR3 STAT1 FGFR2
8 craniofacial MP:0005382 10.03 CBL FGF8 FGFR1 FGFR3 FGFR2 PTH1R
9 limbs/digits/tail MP:0005371 10.03 COMP FGFR1 CBL FGF8 STAT1 FGFR2
10 digestive/alimentary MP:0005381 10.02 FGF8 FGFR1 FGFR3 STAT1 FGFR2 PTH1R
11 endocrine/exocrine gland MP:0005379 10.01 CBL FGF8 PTH1R FGFR1 STAT1 FGFR2
12 mortality/aging MP:0010768 10.01 CBL FGF8 FGF13 FGFR1 FGFR3 STAT1
13 hearing/vestibular/ear MP:0005377 9.91 CBL FGF8 FGFR3 FGFR2 FGFR1
14 nervous system MP:0003631 9.87 FGF8 FGF13 FGFR1 FGFR3 STAT1 FGFR2
15 muscle MP:0005369 9.85 CBL FGF8 COMP FGFR1 STAT1 FGFR2
16 normal MP:0002873 9.73 FGF8 COMP FGFR1 FGFR3 STAT1 FGFR2
17 skeleton MP:0005390 9.56 CBL FGF8 COMP FGFR1 FGFR3 STAT1
18 respiratory system MP:0005388 9.55 CBL FGF8 PTH1R FGFR3 FGFR2
19 vision/eye MP:0005391 9.1 FGF8 FGFR1 FGFR3 STAT1 FGFR2 PTH1R
Sources

Drugs & Therapeutics for Thanatophoric Dysplasia, Type I

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Drugs for Thanatophoric Dysplasia, Type I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Phase 4
2
Ustekinumab Approved, Investigational Phase 2 815610-63-0
3 glucagon Phase 2
4 Gastrointestinal Agents Phase 2
5 Glucagon-Like Peptide 1 Phase 2
6 Hormone Antagonists Phase 2
7 Dermatologic Agents Phase 2
8 Hormones Phase 2
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
10 Hypoglycemic Agents Phase 2
11 Incretins Phase 2
12
Nicotine Approved Phase 1 54-11-5 942 89594
13 Central Nervous System Stimulants Phase 1
14 Cholinergic Agents Phase 1
15 Neurotransmitter Agents Phase 1
16 Nicotinic Agonists Phase 1
17 Peripheral Nervous System Agents Phase 1
18 Autonomic Agents Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Immunogenicity and Safety Study of Tetanus, Diphtheria and Acellular Pertussis Vaccine Booster Unknown status NCT00870350 Phase 4
2 Single Doses of ZP4207 Adm. sc to Hypoglycemic TD1 pt. to Describe the PK and PD of ZP4207 as Comp. to Marketed Glucagon Completed NCT02660008 Phase 2 ZP4207;GlucaGen
3 Study of Tolerability and Safety of Adding Ustekinumab to INGAP Peptide for 12 Weeks in Adult Patients With TD1 Melitis Completed NCT02204397 Phase 2 INGAP Peptide, Ustekinumab
4 Nicotine Patch - Bioequivalence Study Completed NCT02089308 Phase 1 Test treatment : V0116 transdermal patch;Reference treatment : Nicotine transdermal patch
5 Nicotine Patch - Multidose Bioequivalence Study Completed NCT01658215 Phase 1 V0116 transdermal patch (Test treatment );Nicotine transdermal patch (Reference treatment )
6 Nicotine Patch Bioequivalence Study Completed NCT01658202 Phase 1 V0116 transdermal patch (Test treatment );Nicotine transdermal patch (Reference Treatment )

Search NIH Clinical Center for Thanatophoric Dysplasia, Type I

Cochrane evidence based reviews: thanatophoric dysplasia

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Genetic Tests for Thanatophoric Dysplasia, Type I

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Genetic tests related to Thanatophoric Dysplasia, Type I:

# Genetic test Affiliating Genes
1 Thanatophoric Dysplasia Type 1 29 FGFR3
Sources

Anatomical Context for Thanatophoric Dysplasia, Type I

About this section

MalaCards organs/tissues related to Thanatophoric Dysplasia, Type I:

41
Skin, Bone, Lung, Eye, Testes, Temporal Lobe, Heart
Sources

Publications for Thanatophoric Dysplasia, Type I

About this section

Articles related to Thanatophoric Dysplasia, Type I:

(show top 50) (show all 169)
# Title Authors Year
1
Regulation of ciliary function by fibroblast growth factor signaling identifies FGFR3-related disorders achondroplasia and thanatophoric dysplasia as ciliopathies. ( 29360984 )
2018
2
Genetically confirmed thanatophoric dysplasia with fibroblast growth factor receptor 3 mutation. ( 28249712 )
2017
3
Identification of a novel insertion mutation in FGFR3 that causes thanatophoric dysplasia type 1. ( 27028100 )
2016
4
A case of thanatophoric dysplasia type 2: a novel mutation. ( 25800480 )
2015
5
Increased first-trimester nuchal translucency associated with thanatophoric dysplasia type 1. ( 25671245 )
2015
6
Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next generation sequencing allows for a safer, more accurate and comprehensive approach. ( 25728633 )
2015
7
Effect of thanatophoric dysplasia type I mutations on FGFR3 dimerization. ( 25606676 )
2015
8
Thanatophoric dysplasia in a dichorionic twin confirmed by genetic analysis at the early second trimester: A case report and literature review. ( 24678489 )
2014
9
Thanatophoric dysplasia type I: a rare case report at fetal autopsy. ( 25328339 )
2014
10
Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis. ( 24859745 )
2014
11
C-type natriuretic peptide (CNP) plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia. ( 25387261 )
2014
12
FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met. ( 25119967 )
2014
13
Lethal short limb dwarfism: thanatophoric dysplasia- type I. ( 25584280 )
2014
14
Dysmorphic choroid plexuses and hydrocephalus associated with increased nuchal translucency: Early ultrasound markers of de novo thanatophoric dysplasia type II with cloverleaf skull (Kleeblattschaedel). ( 24517215 )
2014
15
Temporal lobe dysplasia: a characteristic sonographic finding in thanatophoric dysplasia. ( 24585534 )
2014
16
Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA. ( 23408600 )
2013
17
Molecular Analysis of a Case of Thanatophoric Dysplasia Reveals Two de novo FGFR3 Missense Mutations located in cis. ( 23573386 )
2013
18
Growth and development in thanatophoric dysplasia - an update 25A years later. ( 25356217 )
2013
19
Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a pregnancy affected with fetal cloverleaf skull, occipital pseudoencephalocele, ventriculomegaly, straight short femurs, and thanatophoric dysplasia type II. ( 24075385 )
2013
20
Thanatophoric dysplasia: autopsy findings over a 25-year period. ( 23323754 )
2013
21
The "old theme" of variability versus transitory phenotypes in thanatophoric dysplasia type 1: two 19-week-old fetuses with ("San Diego" variant) and without ragged metaphyses due to the same FGFR3 mutation. ( 24038754 )
2013
22
Brain malformation with loss of normal FGFR3 expression in thanatophoric dysplasia type I. ( 23551494 )
2013
23
Microarray for skeletal dysplasias: thanatophoric dysplasia diagnosed in utero using microarray technology. ( 22744731 )
2013
24
High-output cardiac failure in a fetus with thanatophoric dysplasia associated with large placental chorioangioma: case report. ( 22508320 )
2012
25
Disruption of a Sox9-I^-catenin circuit by mutant Fgfr3 in thanatophoric dysplasia type II. ( 22843502 )
2012
26
Thanatophoric dysplasia, type I. ( 22643294 )
2012
27
Abnormal gyration of the temporal lobe and megalencephaly are typical features of thanatophoric dysplasia and can be visualized prenatally by ultrasound. ( 22374812 )
2012
28
Diagnosis of chromosomal abnormalities in a patient with thanatophoric dysplasia (TD) type I: The first report describing an important association between cytogenetic findings and TD. ( 23569503 )
2012
29
Rapid detection of common mutations of the FGFR3 gene causing thanatophoric dysplasia type I: two case reports. ( 22414243 )
2012
30
Diagnosis and counseling of thanatophoric dysplasia with four-dimensional ultrasound. ( 22734441 )
2012
31
A novel FGFR3-binding peptide inhibits FGFR3 signaling and reverses the lethal phenotype of mice mimicking human thanatophoric dysplasia. ( 23014564 )
2012
32
Atypical achondroplasia due to somatic mosaicism for the common thanatophoric dysplasia mutation R248C. ( 22106050 )
2012
33
Intermittent PTH (1-34) injection rescues the retarded skeletal development and postnatal lethality of mice mimicking human achondroplasia and thanatophoric dysplasia. ( 22634226 )
2012
34
Anesthetic management of an infant with thanatophoric dysplasia for suboccipital decompression. ( 21155935 )
2011
35
Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis. ( 21204232 )
2011
36
Thanatophoric dysplasia: a rare entity. ( 22043415 )
2011
37
Early ultrasound suspect of thanatophoric dysplasia followed by first trimester molecular diagnosis. ( 21671381 )
2011
38
Genotyping of the C742T mutation of the FGFR3 gene causing type 1 thanatophoric dysplasia by high-resolution melting analysis. ( 20569165 )
2011
39
The prevalence of thanatophoric dysplasia and lethal osteogenesis imperfecta type II in Northern Ireland - a complete population study. ( 22375084 )
2010
40
Stippling: a first trimester marker for thanatophoric dysplasia type I. ( 20954151 )
2010
41
Malformation of the fetal brain in thanatophoric dysplasia: US and MRI findings. ( 20499057 )
2010
42
Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia. ( 20034074 )
2010
43
Prenatal diagnosis of thanatophoric dysplasia and obstetrical challenges. ( 20701518 )
2010
44
First-trimester molecular prenatal diagnosis of a thanatophoric dysplasia. ( 20949643 )
2010
45
A case of thanatophoric dysplasia type I with an R248C mutation in the FGFR3 gene. ( 21253318 )
2010
46
Thanatophoric dysplasia type I associated with increased nuchal translucency in the first trimester: Early prenatal diagnosis using combined ultrasonography and molecular biology. ( 20704477 )
2010
47
Fibroblast growth receptor-3 (FGFR3) G375C mutation in a case of achondroplasia and thanatophoric dysplasia phenotypic overlap. ( 20357663 )
2010
48
Seborrhoeic keratoses and acanthosis nigricans in a long-term survivor of thanatophoric dysplasia. ( 20518778 )
2010
49
Thanatophoric dysplasia: role of 3D sonography. ( 20489076 )
2010
50
FGFR3 gene mutations in Chinese cases of thanatophoric dysplasia type 1. ( 19752524 )
2009
Sources

Variations for Thanatophoric Dysplasia, Type I

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UniProtKB/Swiss-Prot genetic disease variations for Thanatophoric Dysplasia, Type I:

75
# Symbol AA change Variation ID SNP ID
1 FGFR3 p.Arg248Cys VAR_004148 rs121913482
2 FGFR3 p.Ser249Cys VAR_004149 rs121913483
3 FGFR3 p.Gly370Cys VAR_004151 rs121913479
4 FGFR3 p.Ser371Cys VAR_004152 rs121913484
5 FGFR3 p.Tyr373Cys VAR_004153 rs121913485
6 FGFR3 p.Lys650Met VAR_004161 rs121913105

ClinVar genetic disease variations for Thanatophoric Dysplasia, Type I:

6
(show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 FGFR3 NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys) single nucleotide variant Pathogenic rs121913482 GRCh37 Chromosome 4, 1803564: 1803564
2 FGFR3 NM_000142.4(FGFR3): c.1620C> A (p.Asn540Lys) single nucleotide variant Pathogenic rs28933068 GRCh37 Chromosome 4, 1807371: 1807371
3 FGFR3 NM_000142.4(FGFR3): c.1620C> A (p.Asn540Lys) single nucleotide variant Pathogenic rs28933068 GRCh38 Chromosome 4, 1805644: 1805644
4 FGFR3 NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys) single nucleotide variant Pathogenic rs121913482 GRCh38 Chromosome 4, 1801837: 1801837
5 FGFR3 NM_000142.4(FGFR3): c.1111A> T (p.Ser371Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913484 GRCh37 Chromosome 4, 1806092: 1806092
6 FGFR3 NM_000142.4(FGFR3): c.1111A> T (p.Ser371Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913484 GRCh38 Chromosome 4, 1804365: 1804365
7 FGFR3 NM_000142.4(FGFR3): c.2419T> G (p.Ter807Gly) single nucleotide variant Pathogenic rs121913101 GRCh37 Chromosome 4, 1808987: 1808987
8 FGFR3 NM_000142.4(FGFR3): c.2419T> G (p.Ter807Gly) single nucleotide variant Pathogenic rs121913101 GRCh38 Chromosome 4, 1807260: 1807260
9 FGFR3 NM_000142.4(FGFR3): c.2419T> A (p.Ter807Arg) single nucleotide variant Pathogenic rs121913101 GRCh37 Chromosome 4, 1808987: 1808987
10 FGFR3 NM_000142.4(FGFR3): c.2419T> A (p.Ter807Arg) single nucleotide variant Pathogenic rs121913101 GRCh38 Chromosome 4, 1807260: 1807260
11 FGFR3 NM_000142.4(FGFR3): c.2421A> T (p.Ter807Cys) single nucleotide variant Pathogenic rs121913103 GRCh37 Chromosome 4, 1808989: 1808989
12 FGFR3 NM_000142.4(FGFR3): c.2421A> T (p.Ter807Cys) single nucleotide variant Pathogenic rs121913103 GRCh38 Chromosome 4, 1807262: 1807262
13 FGFR3 NM_000142.4(FGFR3): c.746C> G (p.Ser249Cys) single nucleotide variant Pathogenic rs121913483 GRCh37 Chromosome 4, 1803568: 1803568
14 FGFR3 NM_000142.4(FGFR3): c.746C> G (p.Ser249Cys) single nucleotide variant Pathogenic rs121913483 GRCh38 Chromosome 4, 1801841: 1801841
15 FGFR3 NM_000142.4(FGFR3): c.1949A> T (p.Lys650Met) single nucleotide variant Pathogenic rs121913105 GRCh37 Chromosome 4, 1807890: 1807890
16 FGFR3 NM_000142.4(FGFR3): c.1949A> T (p.Lys650Met) single nucleotide variant Pathogenic rs121913105 GRCh38 Chromosome 4, 1806163: 1806163
17 FGFR3 NM_000142.4(FGFR3): c.1118A> G (p.Tyr373Cys) single nucleotide variant Pathogenic rs121913485 GRCh37 Chromosome 4, 1806099: 1806099
18 FGFR3 NM_000142.4(FGFR3): c.1118A> G (p.Tyr373Cys) single nucleotide variant Pathogenic rs121913485 GRCh38 Chromosome 4, 1804372: 1804372
19 FGFR3 NM_000142.4(FGFR3): c.1108G> T (p.Gly370Cys) single nucleotide variant Pathogenic rs121913479 GRCh37 Chromosome 4, 1806089: 1806089
20 FGFR3 NM_000142.4(FGFR3): c.1108G> T (p.Gly370Cys) single nucleotide variant Pathogenic rs121913479 GRCh38 Chromosome 4, 1804362: 1804362
21 FGFR3 NM_000142.4(FGFR3): c.2419T> C (p.Ter807Arg) single nucleotide variant Pathogenic rs121913101 GRCh37 Chromosome 4, 1808987: 1808987
22 FGFR3 NM_000142.4(FGFR3): c.2419T> C (p.Ter807Arg) single nucleotide variant Pathogenic rs121913101 GRCh38 Chromosome 4, 1807260: 1807260
23 FGFR3 NM_000142.4(FGFR3): c.2420G> T (p.Ter807Leu) single nucleotide variant Pathogenic rs397515514 GRCh37 Chromosome 4, 1808988: 1808988
24 FGFR3 NM_000142.4(FGFR3): c.2420G> T (p.Ter807Leu) single nucleotide variant Pathogenic rs397515514 GRCh38 Chromosome 4, 1807261: 1807261
25 FGFR3 NM_000142.4(FGFR3): c.2421A> C (p.Ter807Cys) single nucleotide variant Pathogenic rs121913103 GRCh37 Chromosome 4, 1808989: 1808989
26 FGFR3 NM_000142.4(FGFR3): c.2421A> C (p.Ter807Cys) single nucleotide variant Pathogenic rs121913103 GRCh38 Chromosome 4, 1807262: 1807262
27 FGFR3 NM_000142.4(FGFR3): c.2421A> G (p.Ter807Trp) single nucleotide variant Pathogenic rs121913103 GRCh37 Chromosome 4, 1808989: 1808989
28 FGFR3 NM_000142.4(FGFR3): c.2421A> G (p.Ter807Trp) single nucleotide variant Pathogenic rs121913103 GRCh38 Chromosome 4, 1807262: 1807262
Sources

Expression for Thanatophoric Dysplasia, Type I

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Search GEO for disease gene expression data for Thanatophoric Dysplasia, Type I.
Sources

Pathways for Thanatophoric Dysplasia, Type I

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Pathways related to Thanatophoric Dysplasia, Type I according to GeneCards Suite gene sharing:

(show all 49)
# Super pathways Score Top Affiliating Genes
1
Apoptotic Pathways in Synovial Fibroblasts 64
Show member pathways
 13.68 CBL FGF13 FGF8 FGFR1 FGFR2 FGFR3
2
ERK Signaling 64
Show member pathways
 13.66 CBL FGF13 FGF8 FGFR1 FGFR2 FGFR3
3
GPCR Pathway 64
Show member pathways
 13.53 FGF13 FGF8 FGFR1 FGFR2 FGFR3 STAT1
4
HIV Life Cycle 66
Show member pathways
 13.53 CBL FGF8 FGFR1 FGFR2 FGFR3 STAT1
5
TGF-Beta Pathway 64
Show member pathways
 13.35 FGF13 FGF8 FGFR1 FGFR2 FGFR3 STAT1
6
Class I MHC mediated antigen processing and presentation 66
Show member pathways
 13.27 CBL FGF8 FGFR1 FGFR2 FGFR3
7
Akt Signaling 64
Show member pathways
 13.24 FGF13 FGF8 FGFR1 FGFR2 FGFR3 STAT1
8
Cytokine Signaling in Immune system 66
Show member pathways
 13.19 CBL FGF8 FGFR1 FGFR2 FGFR3 STAT1
9
CREB Pathway 64
Show member pathways
 13.16 FGF13 FGF8 FGFR1 FGFR2 FGFR3
10
PAK Pathway 64
Show member pathways
 13.13 FGF13 FGF8 FGFR1 FGFR2 FGFR3
11
Nanog in Mammalian ESC Pluripotency 64
Show member pathways
 13.12 CBL FGF13 FGF8 FGFR1 FGFR2 FGFR3
12
PI3K/AKT activation 66
Show member pathways
 12.94 FGF8 FGFR1 FGFR2 FGFR3
13
Phospholipase-C Pathway 64
Show member pathways
 12.93 FGF13 FGF8 FGFR1 FGFR2 FGFR3
14
p70S6K Signaling 64
Show member pathways
 12.87 FGF13 FGF8 FGFR1 FGFR2 FGFR3 STAT1
15
PI3K-Akt signaling pathway 37
Show member pathways
 12.76 COMP FGF8 FGFR1 FGFR2 FGFR3 STAT1
16
Endometrial cancer 37
Show member pathways
 12.72 CBL FGFR1 FGFR2 STAT1
17
Downstream signaling of activated FGFR2 66
Show member pathways
 12.72 FGF8 FGFR1 FGFR2 FGFR3
18
MAPK signaling pathway 1 37
12.63 FGF8 FGFR1 FGFR2 FGFR3
19
Glioma 37
Show member pathways
 12.63 CBL FGF8 FGFR1 FGFR2 FGFR3
20
Ras signaling pathway 37
Show member pathways
 12.6 FGF8 FGFR1 FGFR2 FGFR3
21
Downstream signaling events of B Cell Receptor (BCR) 66
Show member pathways
 12.6 CBL FGF8 FGFR1 FGFR2 FGFR3
22
Pathways in cancer 37
12.6 CBL FGF8 FGFR1 FGFR2 FGFR3 STAT1
23
NF-KappaB Family Pathway 64
Show member pathways
 12.55 FGF13 FGF8 FGFR1 FGFR2 FGFR3
24
Regulation of actin cytoskeleton 37 1
12.48 FGF13 FGF8 FGFR1 FGFR2 FGFR3
25
Negative regulation of FGFR3 signaling 66
Show member pathways
 12.41 CBL FGF8 FGFR1 FGFR2 FGFR3
26
Mesodermal Commitment Pathway 1
Show member pathways
 12.36 FGF8 FGFR1 STAT1
27
mTOR signaling pathway (KEGG) 65
Show member pathways
 12.34 FGFR1 FGFR2 FGFR3
28
Apoptosis Pathway 72
Show member pathways
 12.3 FGFR1 FGFR2 FGFR3
29
mTOR signalling 66
Show member pathways
 12.3 FGF8 FGFR1 FGFR2 FGFR3
30
Endocytosis 37
12.26 CBL FGFR2 FGFR3
31
RhoGDI Pathway 64
Show member pathways
 12.21 FGF13 FGF8 FGFR1 FGFR2 FGFR3
32
VEGF Signaling Pathway 67 61
Show member pathways
 12.11 FGFR1 FGFR2 FGFR3
33
AKT Signaling Pathway 67
12.02 FGFR1 FGFR2 FGFR3
34
Tyrosine Kinases / Adaptors 4
12.02 CBL FGFR1 FGFR2 FGFR3
35
Signaling by FGFR2 66
Show member pathways
 12.01 CBL FGF8 FGFR1 FGFR2 FGFR3
36
Signaling pathways regulating pluripotency of stem cells 37
11.98 FGFR1 FGFR2 FGFR3
37
MAPK Signaling: Mitogen Stimulation Pathway 65
Show member pathways
 11.98 FGFR1 FGFR2 FGFR3
38
Development FGFR signaling pathway 22
Show member pathways
 11.84 CBL FGF13 FGF8 FGFR1 FGFR2 FGFR3
39
Neural Crest Differentiation 1
11.79 FGF8 FGFR1 FGFR2 FGFR3
40
FGFR1 mutant receptor activation 66
Show member pathways
 11.78 FGF8 FGFR1 STAT1
41
Angiogenesis (CST) 4
11.77 FGFR1 FGFR2 FGFR3
42
Signaling by FGFR2 in disease 66
Show member pathways
 11.75 FGF8 FGFR1 FGFR2 FGFR3 STAT1
43
Neural Stem Cell Differentiation Pathways and Lineage-specific Markers 65
11.7 FGF8 FGFR1 FGFR3
44
Central carbon metabolism in cancer 37
11.6 FGFR1 FGFR2 FGFR3
45
Endochondral Ossification 1
11.48 FGFR1 FGFR3 PTH1R STAT1
46
Alzheimers Disease Pathway 64
11.41 FGFR1 FGFR2 FGFR3
47
Vemurafenib Pathway, Pharmacodynamics 61
11.38 FGFR1 FGFR2 FGFR3
48
FGF signaling pathway 1
11.23 CBL FGFR1 FGFR2 STAT1
49
Immune response IFN gamma signaling pathway 22
Show member pathways
 11.18 CBL FGF13 FGF8 FGFR1 FGFR2 FGFR3
Sources

GO Terms for Thanatophoric Dysplasia, Type I

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Cellular components related to Thanatophoric Dysplasia, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.43 COMP FGF13 FGF8 FGFR1 FGFR2 FGFR3
2 receptor complex GO:0043235 8.92 FGFR1 FGFR2 FGFR3 PTH1R

Biological processes related to Thanatophoric Dysplasia, Type I according to GeneCards Suite gene sharing:

(show all 42)
# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.97 COMP FGF8 FGFR2 FGFR3
2 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.88 FGF8 FGFR1 FGFR2 FGFR3
3 negative regulation of apoptotic process GO:0043066 9.85 CBL COMP FGF8 FGFR1 FGFR2 FGFR3
4 peptidyl-tyrosine phosphorylation GO:0018108 9.84 FGF8 FGFR1 FGFR2 FGFR3
5 protein autophosphorylation GO:0046777 9.83 FGFR1 FGFR2 FGFR3
6 positive regulation of MAPK cascade GO:0043410 9.82 FGFR1 FGFR2 FGFR3
7 negative regulation of signal transduction GO:0009968 9.81 FGFR1 FGFR2 FGFR3
8 positive regulation of protein kinase B signaling GO:0051897 9.8 FGF8 FGFR1 FGFR2 FGFR3
9 MAPK cascade GO:0000165 9.8 FGF13 FGF8 FGFR1 FGFR2 FGFR3
10 positive regulation of cell proliferation GO:0008284 9.8 FGF8 FGFR1 FGFR2 FGFR3 PTH1R STAT1
11 lung development GO:0030324 9.79 FGF8 FGFR1 FGFR2
12 skeletal system development GO:0001501 9.78 COMP FGFR1 FGFR3 PTH1R
13 positive regulation of kinase activity GO:0033674 9.77 FGFR1 FGFR2 FGFR3
14 inner ear morphogenesis GO:0042472 9.76 FGF8 FGFR1 FGFR2
15 phosphatidylinositol phosphorylation GO:0046854 9.73 FGF8 FGFR1 FGFR2 FGFR3
16 chondrocyte differentiation GO:0002062 9.72 FGFR1 FGFR3 PTH1R
17 bone mineralization GO:0030282 9.7 FGFR2 FGFR3 PTH1R
18 positive regulation of cell division GO:0051781 9.69 FGF8 FGFR2
19 ureteric bud development GO:0001657 9.68 FGFR1 FGFR2
20 positive regulation of cell cycle GO:0045787 9.68 FGFR1 FGFR2
21 skeletal system morphogenesis GO:0048705 9.68 FGFR1 FGFR2
22 midbrain development GO:0030901 9.68 FGFR1 FGFR2
23 positive regulation of cardiac muscle cell proliferation GO:0060045 9.67 FGFR1 FGFR2
24 cell maturation GO:0048469 9.67 FGFR1 PTH1R
25 odontogenesis GO:0042476 9.66 FGF8 FGFR2
26 bone morphogenesis GO:0060349 9.66 FGFR2 FGFR3
27 outflow tract septum morphogenesis GO:0003148 9.65 FGF8 FGFR2
28 interleukin-6-mediated signaling pathway GO:0070102 9.64 CBL STAT1
29 generation of neurons GO:0048699 9.64 FGF8 FGFR1
30 organ induction GO:0001759 9.63 FGF8 FGFR1
31 positive regulation of mesenchymal cell proliferation GO:0002053 9.63 FGFR1 FGFR2 STAT1
32 mesenchymal cell differentiation GO:0048762 9.62 FGFR1 FGFR2
33 lung-associated mesenchyme development GO:0060484 9.61 FGFR1 FGFR2
34 endochondral bone growth GO:0003416 9.61 FGFR2 FGFR3
35 otic vesicle formation GO:0030916 9.6 FGF8 FGFR2
36 orbitofrontal cortex development GO:0021769 9.57 FGFR1 FGFR2
37 ventricular zone neuroblast division GO:0021847 9.56 FGFR1 FGFR2
38 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 9.51 FGFR1 FGFR2
39 branching involved in salivary gland morphogenesis GO:0060445 9.43 FGF8 FGFR1 FGFR2
40 positive regulation of phospholipase activity GO:0010518 9.33 FGFR1 FGFR2 FGFR3
41 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.26 FGF8 FGFR1 FGFR2 FGFR3
42 fibroblast growth factor receptor signaling pathway GO:0008543 9.02 CBL FGF8 FGFR1 FGFR2 FGFR3

Molecular functions related to Thanatophoric Dysplasia, Type I according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.81 FGFR1 FGFR2 PTH1R STAT1
2 transmembrane signaling receptor activity GO:0004888 9.78 FGFR1 FGFR2 FGFR3 PTH1R
3 heparin binding GO:0008201 9.67 COMP FGFR1 FGFR2
4 protein tyrosine kinase activity GO:0004713 9.67 FGF8 FGFR1 FGFR2 FGFR3
5 MAP kinase kinase kinase activity GO:0004709 9.63 FGFR1 FGFR2 FGFR3
6 mitogen-activated protein kinase kinase binding GO:0031434 9.61 FGFR1 FGFR2 FGFR3
7 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.58 FGFR1 FGFR2 FGFR3
8 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.56 FGF8 FGFR1 FGFR2 FGFR3
9 fibroblast growth factor binding GO:0017134 9.5 FGFR1 FGFR2 FGFR3
10 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.46 FGF8 FGFR1 FGFR2 FGFR3
11 1-phosphatidylinositol-3-kinase activity GO:0016303 9.26 FGF8 FGFR1 FGFR2 FGFR3
12 fibroblast growth factor-activated receptor activity GO:0005007 8.8 FGFR1 FGFR2 FGFR3
Sources

Sources for Thanatophoric Dysplasia, Type I

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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