FGFR3 (fibroblast growth factor receptor 3) - Rat Genome Database

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Gene: FGFR3 (fibroblast growth factor receptor 3) Homo sapiens
Symbol: FGFR3
Name: fibroblast growth factor receptor 3
RGD ID: 733044
Description: Enables fibroblast growth factor binding activity; fibroblast growth factor-activated receptor activity; and identical protein binding activity. Involved in several processes, including fibroblast growth factor receptor apoptotic signaling pathway; positive regulation of phosphorylation; and protein phosphorylation. Located in several cellular components, including Golgi apparatus; endoplasmic reticulum; and transport vesicle. Is integral component of plasma membrane. Implicated in several diseases, including Crouzon syndrome-acanthosis nigricans syndrome; LADD syndrome; SADDAN; bone development disease (multiple); and carcinoma (multiple). Biomarker of several diseases, including Merkel cell carcinoma; chronic myeloid leukemia; gastrointestinal system cancer (multiple); thanatophoric dysplasia; and urinary bladder cancer (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ACH; achondroplasia, thanatophoric dwarfism; CD333; CEK2; FGFR-3; fibroblast growth factor receptor 3 variant 4; fibroblast growth factor receptor 3-S; HSFGFR3EX; hydroxyaryl-protein kinase; JTK4; tyrosine kinase JTK4
RGD Orthologs
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: FGFR3P1   FGFR3P2   FGFR3P3   FGFR3P4   FGFR3P5   FGFR3P6  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38.p13 Ensembl41,793,293 - 1,808,872 (+)EnsemblGRCh38hg38GRCh38
GRCh3841,793,293 - 1,808,872 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3741,795,020 - 1,810,594 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3641,765,421 - 1,780,396 (+)NCBINCBI36hg18NCBI36
Build 3441,762,853 - 1,777,829NCBI
Celera41,707,555 - 1,723,113 (+)NCBI
Cytogenetic Map4p16.3NCBI
HuRef41,725,137 - 1,753,471 (+)NCBIHuRef
CHM1_141,792,977 - 1,808,551 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations     Click to see Annotation Detail View
acanthosis nigricans  (IAGP)
achondroplasia  (IAGP)
Achondroplastic Dwarfism  (IAGP)
asphyxiating thoracic dystrophy  (IAGP)
autosomal dominant disease  (ISS)
bladder carcinoma  (IAGP)
bladder urothelial carcinoma  (IAGP,IEP)
bone development disease  (IAGP)
breast adenocarcinoma  (IAGP)
breast cancer  (IEP)
camptodactyly-tall stature-scoliosis-hearing loss syndrome  (IAGP)
carcinoma  (IAGP)
cervical cancer  (IAGP,IEA)
cervical squamous cell carcinoma  (IAGP)
cervix carcinoma  (IAGP)
chondrosarcoma  (ISO)
chronic myeloid leukemia  (IEP)
cleft lip  (EXP)
cleft palate  (EXP)
colon cancer  (IAGP)
colon carcinoma  (IAGP)
colorectal cancer  (IAGP)
Colorectal Neoplasms  (EXP)
craniosynostosis  (IAGP)
Craniosynostosis Syndrome, Autosomal Recessive  (IAGP)
Crouzon syndrome  (IAGP)
Crouzon syndrome-acanthosis nigricans syndrome  (EXP,IAGP)
demyelinating disease  (ISO)
Developmental Disabilities  (IAGP)
Dwarfism  (IAGP,ISO)
endometrial carcinoma  (IAGP)
epidermal nevus  (IAGP)
genetic disease  (IAGP)
Growth Disorders  (IAGP)
Hamartoma  (IAGP)
head and neck squamous cell carcinoma  (IAGP)
hypochondroplasia  (IAGP)
Knee Osteoarthritis  (ISO)
LADD syndrome  (IAGP)
lung adenocarcinoma  (IAGP)
lung squamous cell carcinoma  (IAGP)
Merkel cell carcinoma  (IEP)
Muenke syndrome  (IAGP)
multiple myeloma  (EXP,IAGP)
myeloid neoplasm  (IAGP)
neuroblastoma  (IAGP)
oral squamous cell carcinoma  (IAGP)
papillary renal cell carcinoma  (IAGP)
papillomavirus infectious disease  (IAGP)
Paraproteinemias  (IAGP)
Pituitary Stalk Interruption Syndrome  (IAGP)
plasma cell neoplasm  (IAGP)
plasmacytoma  (IAGP)
Saethre-Chotzen syndrome  (IAGP)
sarcoma  (IAGP)
scoliosis  (ISS)
seborrheic keratosis  (IAGP)
seminoma  (EXP)
spermatocytoma  (IAGP)
Sporadic Papillary Renal Cell Carcinoma  (IAGP)
syndromic microphthalmia 5  (IAGP)
testicular cancer  (IAGP)
testicular germ cell cancer  (IEA)
Testicular Germ Cell Tumor  (IAGP)
thanatophoric dysplasia  (EXP,IAGP,IEP,ISO)
Thanatophoric Dysplasia, Type I  (IAGP)
Thanatophoric Dysplasia, Type II  (IAGP)
tongue cancer  (IEP)
tonsil squamous cell carcinoma  (IEP)
transitional cell carcinoma  (EXP,IAGP)
urinary bladder cancer  (EXP,IAGP,IEP,IMP)
Urinary Bladder Neoplasm  (IAGP)
Uterine Cervical Neoplasms  (IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1,3,5-trinitro-1,3,5-triazinane  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17alpha-ethynylestradiol  (EXP)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP,ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (EXP,ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
antimonite  (EXP)
arachidonic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
bis(2-chloroethyl) sulfide  (EXP,ISO)
bisphenol A  (EXP,ISO)
butan-1-ol  (EXP)
butanal  (EXP)
calcitriol  (ISO)
carbon nanotube  (ISO)
chlordecone  (ISO)
chlorthalidone  (ISO)
chrysene  (ISO)
cisplatin  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
dexamethasone  (EXP,ISO)
diazinon  (EXP)
dibenz[a,h]anthracene  (ISO)
dibutyl phthalate  (ISO)
dimercaprol  (ISO)
dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate  (EXP)
dorsomorphin  (EXP)
doxorubicin  (ISO)
endosulfan  (EXP,ISO)
entinostat  (EXP)
ethanol  (EXP,ISO)
fenamidone  (ISO)
genistein  (EXP)
gossypol  (EXP)
heparan sulfate  (ISO)
heparin  (ISO)
hydrogen chloride  (EXP)
hydroquinone  (EXP)
hydroquinone O-beta-D-glucopyranoside  (EXP)
indometacin  (EXP)
isobutanol  (EXP)
isoprenaline  (ISO)
isotretinoin  (EXP)
ketamine  (ISO)
kojic acid  (EXP)
lead(0)  (EXP)
lead(2+)  (EXP)
lenalidomide  (EXP)
Licochalcone B  (EXP)
maneb  (ISO)
masitinib  (EXP)
metacetamol  (ISO)
methamphetamine  (ISO)
methylmercury chloride  (EXP)
midostaurin  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
nitrofen  (ISO)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
PCB138  (ISO)
PD173074  (EXP)
pentane-2,3-dione  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
pirinixic acid  (EXP,ISO)
pomalidomide  (EXP)
ponatinib  (EXP)
propiconazole  (ISO)
quercetin  (EXP)
resveratrol  (ISO)
retinyl acetate  (ISO)
SB 431542  (EXP)
sildenafil citrate  (ISO)
silicon dioxide  (EXP)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenate  (EXP)
sodium arsenite  (EXP)
sulforaphane  (EXP)
tamoxifen  (ISO)
tanespimycin  (EXP)
temozolomide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thalidomide  (EXP)
triacsin C  (EXP)
trichostatin A  (EXP)
triptonide  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)
vorinostat  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
alveolar secondary septum development  (ISO)
animal organ development  (IEA)
axonogenesis involved in innervation  (ISO)
bone development  (ISO)
bone maturation  (ISS)
bone mineralization  (ISS)
bone morphogenesis  (ISO,ISS,TAS)
bone trabecula morphogenesis  (ISO)
calcium ion homeostasis  (ISO)
cartilage development  (ISO)
cell differentiation  (ISO)
cell-cell signaling  (IEA,ISO)
central nervous system myelination  (ISO)
chondrocyte differentiation  (TAS)
chondrocyte proliferation  (TAS)
cochlea development  (ISO)
digestive tract morphogenesis  (ISO)
endochondral bone growth  (TAS)
endochondral ossification  (TAS)
epithelial cell fate commitment  (ISO)
ERK1 and ERK2 cascade  (ISO)
fibroblast growth factor receptor apoptotic signaling pathway  (IMP)
fibroblast growth factor receptor signaling pathway  (IDA,IEA,IGI,ISO)
forebrain development  (ISO)
inner ear development  (ISO)
inner ear receptor cell differentiation  (ISO)
lens fiber cell development  (ISO)
lens morphogenesis in camera-type eye  (ISO)
MAPK cascade  (TAS)
morphogenesis of an epithelium  (ISO)
negative regulation of astrocyte differentiation  (ISO)
negative regulation of cell differentiation  (ISO)
negative regulation of cell population proliferation  (ISO)
negative regulation of developmental growth  (ISS)
negative regulation of epithelial cell proliferation  (ISO)
negative regulation of gene expression  (ISO)
negative regulation of mitotic nuclear division  (ISO)
negative regulation of smoothened signaling pathway  (ISO)
negative regulation of transcription by RNA polymerase II  (ISO)
oligodendrocyte development  (ISO)
p38MAPK cascade  (ISO)
peptidyl-tyrosine phosphorylation  (IDA,IEA)
positive regulation of bone mineralization  (ISO)
positive regulation of canonical Wnt signaling pathway  (ISO)
positive regulation of cell population proliferation  (IEA,IGI,IMP,ISO)
positive regulation of cell proliferation in bone marrow  (ISO)
positive regulation of endothelial cell proliferation  (ISO)
positive regulation of ERK1 and ERK2 cascade  (IMP)
positive regulation of kinase activity  (IBA)
positive regulation of MAPK cascade  (IBA,IMP,ISO)
positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway  (ISO)
positive regulation of neuron apoptotic process  (ISO)
positive regulation of peptidyl-tyrosine phosphorylation  (ISO)
positive regulation of phosphatidylinositol 3-kinase activity  (IMP,TAS)
positive regulation of phospholipase activity  (IMP)
positive regulation of protein ubiquitination  (ISO)
positive regulation of tyrosine phosphorylation of STAT protein  (IMP)
post-anal tail morphogenesis  (ISO)
protein autophosphorylation  (IDA)
regulation of bone remodeling  (ISO)
regulation of collagen metabolic process  (ISO)
regulation of ossification  (ISO)
regulation of osteoclast differentiation  (ISO)
response to axon injury  (ISO)
response to sodium phosphate  (ISO)
skeletal system development  (TAS)
somatic stem cell population maintenance  (ISO)
substantia nigra development  (ISO)
transmembrane receptor protein tyrosine kinase signaling pathway  (IBA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
2-3 finger syndactyly  (IAGP)
Abnormal clavicle morphology  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal form of the vertebral bodies  (IAGP)
Abnormal iliac wing morphology  (IAGP)
Abnormal palate morphology  (IAGP)
Abnormal sacroiliac joint morphology  (IAGP)
Abnormal sacrum morphology  (IAGP)
Abnormal salivary gland morphology  (IAGP)
Abnormality of cardiovascular system morphology  (IAGP)
Abnormality of femur morphology  (IAGP)
Abnormality of lower limb joint  (IAGP)
Abnormality of neuronal migration  (IAGP)
Abnormality of pelvic girdle bone morphology  (IAGP)
Abnormality of the antihelix  (IAGP)
Abnormality of the cervical spine  (IAGP)
Abnormality of the elbow  (IAGP)
Abnormality of the kidney  (IAGP)
Abnormality of the metacarpal bones  (IAGP)
Abnormality of the metaphysis  (IAGP)
Abnormality of the shape of the midface  (IAGP)
Absence of Stensen duct  (IAGP)
Absent lacrimal punctum  (IAGP)
Absent proximal phalanx of thumb  (IAGP)
Absent radius  (IAGP)
Absent thumb  (IAGP)
Acanthosis nigricans  (IAGP)
Alacrima  (IAGP)
Amblyopia  (IAGP)
Anosmia  (IAGP)
Anteverted nares  (IAGP)
Aplasia of the parotid gland  (IAGP)
Aplasia/Hypoplasia of the cerebellum  (IAGP)
Aplasia/hypoplasia of the extremities  (IAGP)
Aplasia/Hypoplasia of the lungs  (IAGP)
Aplasia/Hypoplasia of the mandible  (IAGP)
Arachnodactyly  (IAGP)
Arnold-Chiari malformation  (IAGP)
Arthritis  (IAGP)
Atrial septal defect  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Azoospermia  (IAGP)
Bell-shaped thorax  (IAGP)
Bicornuate uterus  (IAGP)
Bifid uvula  (IAGP)
Bilateral single transverse palmar creases  (IAGP)
Bilateral triphalangeal thumbs  (IAGP)
Bladder carcinoma  (IAGP)
Bladder neoplasm  (IAGP)
Blepharospasm  (IAGP)
Bowed humerus  (IAGP)
Bowing of the legs  (IAGP)
Bowing of the long bones  (IAGP)
Brachycephaly  (IAGP)
Brachydactyly  (IAGP)
Brain atrophy  (IAGP)
Brain stem compression  (IAGP)
Broad femoral metaphyses  (IAGP)
Broad forehead  (IAGP)
Broad hallux  (IAGP)
Broad thumb  (IAGP)
Camptodactyly of finger  (IAGP)
Camptodactyly of toe  (IAGP)
Capitate-hamate fusion  (IAGP)
Carcinoma  (IAGP)
Carious teeth  (IAGP)
Carpal synostosis  (IAGP)
Central apnea  (IAGP)
Central sleep apnea  (IAGP)
Cervical spinal canal stenosis  (IAGP)
Childhood onset short-limb short stature  (IAGP)
Choanal atresia  (IAGP)
Choriocarcinoma  (IAGP)
Cleft palate  (IAGP)
Clinodactyly  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Cloverleaf skull  (IAGP)
Cognitive impairment  (IAGP)
Colon cancer  (IAGP)
Conductive hearing impairment  (IAGP)
Cone-shaped epiphyses of the phalanges of the hand  (IAGP)
Cone-shaped epiphysis  (IAGP)
Congestive heart failure  (IAGP)
Conical incisor  (IAGP)
Convex nasal ridge  (IAGP)
Corneal neovascularization  (IAGP)
Corneal perforation  (IAGP)
Corneal ulceration  (IAGP)
Coronal craniosynostosis  (IAGP)
Coronal hypospadias  (IAGP)
Craniofacial dysostosis  (IAGP)
Craniosynostosis  (IAGP)
Cryptorchidism  (IAGP)
Cupped ear  (IAGP)
Dacryocystitis  (IAGP)
Decreased corneal sensation  (IAGP)
Decreased fetal movement  (IAGP)
Delayed cranial suture closure  (IAGP)
Delayed eruption of primary teeth  (IAGP)
Dental malocclusion  (IAGP)
Depressed nasal bridge  (IAGP)
Disproportionate short-limb short stature  (IAGP)
Downslanted palpebral fissures  (IAGP)
Duplication of thumb phalanx  (IAGP)
Dysphagia  (IAGP)
Elevated alpha-fetoprotein  (IAGP)
Embryonal neoplasm  (IAGP)
Enamel hypoplasia  (IAGP)
Encephalocele  (IAGP)
Endometrial carcinoma  (IAGP)
Enlarged cerebellum  (IAGP)
Epicanthus  (IAGP)
Epidermal nevus  (IAGP)
Epiphora  (IAGP)
Excessive wrinkled skin  (IAGP)
Exotropia  (IAGP)
External ear malformation  (IAGP)
Facial asymmetry  (IAGP)
Femoral bowing  (IAGP)
Fibular bowing  (IAGP)
Finger syndactyly  (IAGP)
Flared metaphysis  (IAGP)
Flat acetabular roof  (IAGP)
Flat face  (IAGP)
Frontal bossing  (IAGP)
Functional abnormality of the middle ear  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized joint laxity  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Generalized-onset seizure  (IAGP)
Genu varum  (IAGP)
Global developmental delay  (IAGP)
Gray matter heterotopia  (IAGP)
Growth delay  (IAGP)
Hallux valgus  (IAGP)
Hamartoma  (IAGP)
Hearing impairment  (IAGP)
Hereditary nonpolyposis colorectal carcinoma  (IAGP)
High forehead  (IAGP)
High myopia  (IAGP)
High palate  (IAGP)
High, narrow palate  (IAGP)
Hip joint hypermobility  (IAGP)
Holoprosencephaly  (IAGP)
Hydrocephalus  (IAGP)
Hydronephrosis  (IAGP)
Hyperextensible skin  (IAGP)
Hyperlordosis  (IAGP)
Hypermelanotic macule  (IAGP)
Hypertelorism  (IAGP)
Hypodontia  (IAGP)
Hypopigmentation of hair  (IAGP)
Hypopigmented skin patches  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplasia of the epiglottis  (IAGP)
Hypoplasia of the lacrimal punctum  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Hypoplasia of the radius  (IAGP)
Hypoplasia of the ulna  (IAGP)
Hypoplastic ilia  (IAGP)
Hypoplastic lacrimal duct  (IAGP)
Hypotelorism  (IAGP)
Hypotonia  (IAGP)
Hypoxemia  (IAGP)
Increased corneal thickness  (IAGP)
Increased intracranial pressure  (IAGP)
Increased nuchal translucency  (IAGP)
Increased vertebral height  (IAGP)
Infantile axial hypotonia  (IAGP)
Infantile muscular hypotonia  (IAGP)
Inflammatory abnormality of the eye  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, profound  (IAGP)
Intellectual disability, severe  (IAGP)
Joint contracture of the hand  (IAGP)
Joint hyperflexibility  (IAGP)
Joint stiffness  (IAGP)
Keratoconjunctivitis sicca  (IAGP)
Knee joint hypermobility  (IAGP)
Kyphosis  (IAGP)
Lacrimal duct aplasia  (IAGP)
Lacrimal gland aplasia  (IAGP)
Lacrimal gland hypoplasia  (IAGP)
Lethal short-limbed short stature  (IAGP)
Limbal stem cell deficiency  (IAGP)
Limitation of joint mobility  (IAGP)
Limited elbow extension  (IAGP)
Limited hip extension  (IAGP)
Low anterior hairline  (IAGP)
Low-set ears  (IAGP)
Lower limb undergrowth  (IAGP)
Lumbar hyperlordosis  (IAGP)
Lumbar kyphosis in infancy  (IAGP)
Lung adenocarcinoma  (IAGP)
Macrocephaly  (IAGP)
Malar flattening  (IAGP)
Megalencephaly  (IAGP)
Melanocytic nevus  (IAGP)
Mesomelia  (IAGP)
Metacarpal synostosis  (IAGP)
Metaphyseal chondrodysplasia  (IAGP)
Metaphyseal irregularity  (IAGP)
Microcephaly  (IAGP)
Microdontia  (IAGP)
Micrognathia  (IAGP)
Micromelia  (IAGP)
Microtia  (IAGP)
Midface retrusion  (IAGP)
Migraine  (IAGP)
Mixed hearing impairment  (IAGP)
Motor delay  (IAGP)
Multiple myeloma  (IAGP)
Myeloproliferative disorder  (IAGP)
Nail dysplasia  (IAGP)
Narrow chest  (IAGP)
Narrow greater sciatic notch  (IAGP)
Narrow internal auditory canal  (IAGP)
Narrow palate  (IAGP)
Nasolacrimal duct obstruction  (IAGP)
Neonatal death  (IAGP)
Neonatal short-limb short stature  (IAGP)
Neoplasm  (IAGP)
Neoplasm of the stomach  (IAGP)
Nephrosclerosis  (IAGP)
Neuroblastoma  (IAGP)
Numerous nevi  (IAGP)
Obesity  (IAGP)
Obstructive sleep apnea  (IAGP)
Open angle glaucoma  (IAGP)
Open bite  (IAGP)
Optic atrophy  (IAGP)
Osteoarthritis  (IAGP)
Osteochondroma  (IAGP)
Otitis media  (IAGP)
Parietal bossing  (IAGP)
Partial duplication of thumb phalanx  (IAGP)
Patent ductus arteriosus  (IAGP)
Pectus excavatum  (IAGP)
Periorbital fullness  (IAGP)
Plagiocephaly  (IAGP)
Platyspondyly  (IAGP)
Polyhydramnios  (IAGP)
Preaxial polydactyly  (IAGP)
Prominent crus of helix  (IAGP)
Prominent nasal bridge  (IAGP)
Proportionate short stature  (IAGP)
Proptosis  (IAGP)
Proximal radio-ulnar synostosis  (IAGP)
Ptosis  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Radial deviation of finger  (IAGP)
Radial deviation of the 3rd finger  (IAGP)
Recurrent corneal erosions  (IAGP)
Recurrent otitis media  (IAGP)
Redundant skin  (IAGP)
Renal agenesis  (IAGP)
Renal cell carcinoma  (IAGP)
Renal hypoplasia  (IAGP)
Respiratory insufficiency  (IAGP)
Restrictive ventilatory defect  (IAGP)
Rhizomelia  (IAGP)
Sarcoma  (IAGP)
Scoliosis  (IAGP)
Seborrheic keratosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe global developmental delay  (IAGP)
Severe platyspondyly  (IAGP)
Severe short stature  (IAGP)
Short femoral neck  (IAGP)
Short femur  (IAGP)
Short foot  (IAGP)
Short greater sciatic notch  (IAGP)
Short long bone  (IAGP)
Short middle phalanx of finger  (IAGP)
Short middle phalanx of toe  (IAGP)
Short nasal bridge  (IAGP)
Short palm  (IAGP)
Short proximal phalanx of finger  (IAGP)
Short ribs  (IAGP)
Short stature  (IAGP)
Short thorax  (IAGP)
Short thumb  (IAGP)
Short toe  (IAGP)
Skeletal dysplasia  (IAGP)
Sleep apnea  (IAGP)
Small abnormally formed scapulae  (IAGP)
Small face  (IAGP)
Small for gestational age  (IAGP)
Small foramen magnum  (IAGP)
Small thenar eminence  (IAGP)
Somatic mosaicism  (IAGP)
Somatic mutation  (IAGP)
Spinal canal stenosis  (IAGP)
Spinal stenosis with reduced interpedicular distance  (IAGP)
Split hand  (IAGP)
Sporadic  (IAGP)
Squamous cell lung carcinoma  (IAGP)
Strabismus  (IAGP)
Tall stature  (IAGP)
Tarsal synostosis  (IAGP)
Telecanthus  (IAGP)
Temporal bossing  (IAGP)
Teratoma  (IAGP)
Testicular neoplasm  (IAGP)
Thimble-shaped middle phalanges of hand  (IAGP)
Thoracic hypoplasia  (IAGP)
Thoracolumbar kyphosis  (IAGP)
Tibial bowing  (IAGP)
Toe syndactyly  (IAGP)
Transitional cell carcinoma of the bladder  (IAGP)
Trident hand  (IAGP)
Triphalangeal thumb  (IAGP)
Turricephaly  (IAGP)
Underdeveloped supraorbital ridges  (IAGP)
Unilateral renal agenesis  (IAGP)
Upper airway obstruction  (IAGP)
Upper limb undergrowth  (IAGP)
Uterine leiomyosarcoma  (IAGP)
Ventriculomegaly  (IAGP)
Vesicoureteral reflux  (IAGP)
Visual field defect  (IAGP)
Visual impairment  (IAGP)
Wide anterior fontanel  (IAGP)
Wide-cupped costochondral junctions  (IAGP)
Xerostomia  (IAGP)

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