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

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Gene: FGFR3 (fibroblast growth factor receptor 3) Homo sapiens
Analyze
Symbol: FGFR3
Name: fibroblast growth factor receptor 3
RGD ID: 733044
HGNC Page HGNC:3690
Description: Enables fibroblast growth factor binding activity; fibroblast growth factor receptor activity; and identical protein binding activity. Involved in several processes, including fibroblast growth factor receptor apoptotic signaling pathway; positive regulation of ERK1 and ERK2 cascade; and positive regulation of tyrosine phosphorylation of STAT protein. Located in several cellular components, including Golgi apparatus; endoplasmic reticulum; and transport vesicle. Implicated in several diseases, including Human papillomavirus infectious disease; SADDAN; acanthosis nigricans; bone 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
Previously 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
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
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
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3841,793,293 - 1,808,867 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl41,793,293 - 1,808,872 (+)EnsemblGRCh38hg38GRCh38
GRCh3741,795,020 - 1,810,594 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3641,765,421 - 1,780,396 (+)NCBINCBI36Build 36hg18NCBI36
Build 3441,762,853 - 1,777,829NCBI
Celera41,707,555 - 1,723,113 (+)NCBICelera
Cytogenetic Map4p16.3NCBI
HuRef41,725,137 - 1,753,471 (+)NCBIHuRef
CHM1_141,792,977 - 1,808,551 (+)NCBICHM1_1
T2T-CHM13v2.041,791,772 - 1,807,344 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
46, XY Disorders of Sex Development  (IAGP)
absence epilepsy  (IAGP)
acanthosis nigricans  (IAGP)
achondroplasia  (EXP,IAGP,ISS)
Achondroplastic Dwarfism  (IAGP)
acrocephalosyndactylia  (IAGP)
asphyxiating thoracic dystrophy  (IAGP)
autism spectrum disorder  (IAGP)
autosomal dominant disease  (ISS)
bladder carcinoma  (IAGP)
bladder urothelial carcinoma  (IEP)
breast adenocarcinoma  (IAGP)
breast cancer  (IEP)
camptodactyly-tall stature-scoliosis-hearing loss syndrome  (EXP,IAGP)
carcinoma  (IAGP)
cervical cancer  (IAGP)
cervical squamous cell carcinoma  (IAGP)
cervix carcinoma  (IAGP)
cherubism  (IAGP)
chondrosarcoma  (ISO)
chronic myeloid leukemia  (IEP)
cleft lip  (EXP)
cleft palate  (EXP)
colon carcinoma  (IAGP)
colorectal cancer  (IAGP)
Colorectal Neoplasms  (EXP)
connective tissue disease  (IAGP)
craniosynostosis  (IAGP)
Craniosynostosis 3  (IAGP)
Craniosynostosis Syndrome, Autosomal Recessive  (IAGP)
Crouzon syndrome  (IAGP)
Crouzon syndrome-acanthosis nigricans syndrome  (EXP,IAGP)
demyelinating disease  (ISO)
Developmental Disabilities  (IAGP)
diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype  (IAGP)
Dwarfism  (IAGP,ISO)
endometrial carcinoma  (IAGP)
epidermal nevus  (EXP,IAGP)
epilepsy  (IAGP)
Facial Asymmetry  (IAGP)
genetic disease  (IAGP)
Growth Disorders  (IAGP)
Hamartoma  (IAGP)
head and neck squamous cell carcinoma  (IAGP)
hepatoblastoma  (IAGP)
Hodgkin's lymphoma  (IAGP)
hypochondroplasia  (EXP,IAGP,ISS)
Knee Osteoarthritis  (ISO)
lacrimoauriculodentodigital syndrome 1  (IAGP)
lacrimoauriculodentodigital syndrome 2  (IAGP)
LADD syndrome  (IAGP)
Larsen syndrome  (IAGP)
lung adenocarcinoma  (IAGP)
lung squamous cell carcinoma  (IAGP)
Merkel cell carcinoma  (IEP)
Muenke syndrome  (EXP,IAGP,ISS)
multiple myeloma  (EXP,IAGP)
myeloid neoplasm  (IAGP)
Nervous System Malformations  (IAGP)
neuroblastoma  (IAGP)
oral squamous cell carcinoma  (IAGP)
osteochondrodysplasia  (IAGP)
papillary renal cell carcinoma  (IAGP)
papillomavirus infectious disease  (IAGP)
Paraproteinemias  (IAGP)
Pituitary Stalk Interruption Syndrome  (IAGP)
plasma cell neoplasm  (IAGP)
SADDAN  (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  (IAGP)
Testicular Germ Cell Tumor  (EXP,IAGP)
thanatophoric dysplasia  (EXP,IAGP,IEP,ISO,ISS)
Thanatophoric Dysplasia, Type I  (EXP,IAGP)
Thanatophoric Dysplasia, Type II  (EXP,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  (EXP,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  (EXP,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,ISO)
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)
caffeine  (EXP)
calcitriol  (ISO)
carbon nanotube  (ISO)
chlordecone  (ISO)
chlorthalidone  (ISO)
chrysene  (ISO)
cisplatin  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cordycepin  (ISO)
cyclosporin A  (EXP)
dexamethasone  (EXP,ISO)
diallyl disulfide  (EXP)
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)
gentamycin  (ISO)
gossypol  (EXP)
heparan sulfate  (ISO)
heparin  (ISO)
hydrogen chloride  (EXP)
hydroquinone  (EXP)
hydroquinone O-beta-D-glucopyranoside  (EXP)
indometacin  (EXP)
inulin  (ISO)
isobutanol  (EXP)
isoprenaline  (ISO)
isotretinoin  (EXP)
ketamine  (ISO)
kojic acid  (EXP)
lead(0)  (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)
ozone  (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,ISO)
sulforaphane  (EXP)
tamoxifen  (ISO)
tanespimycin  (EXP)
temozolomide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thalidomide  (EXP)
thioacetamide  (ISO)
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)
apoptotic process  (IEA)
astrocyte differentiation  (ISO)
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 population proliferation  (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)
endothelial cell proliferation  (ISO)
epithelial cell fate commitment  (ISO)
epithelial cell proliferation  (ISO)
ERK1 and ERK2 cascade  (ISO)
fibroblast growth factor receptor apoptotic signaling pathway  (IMP)
fibroblast growth factor receptor signaling pathway  (IDA,IEA,IGI,ISO,TAS)
forebrain development  (ISO)
inner ear auditory receptor cell differentiation  (ISO)
inner ear development  (ISO)
lens fiber cell development  (ISO)
lens morphogenesis in camera-type eye  (ISO)
MAPK cascade  (ISO,TAS)
mitotic nuclear division  (ISO)
morphogenesis of an epithelium  (ISO)
negative regulation of astrocyte 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 inner ear auditory receptor cell differentiation  (ISO)
negative regulation of mitotic nuclear division  (ISO)
negative regulation of neuroblast proliferation  (ISO)
negative regulation of smoothened signaling pathway  (ISO)
negative regulation of transcription by RNA polymerase II  (ISO)
neuroblast proliferation  (ISO)
neuroepithelial cell differentiation  (ISO)
neuron apoptotic process  (ISO)
oligodendrocyte development  (ISO)
p38MAPK cascade  (ISO)
phosphorylation  (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 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/protein kinase B signal transduction  (IMP,TAS)
positive regulation of protein ubiquitination  (ISO)
positive regulation of tyrosine phosphorylation of STAT protein  (IMP)
post-anal tail morphogenesis  (ISO)
protein ubiquitination  (ISO)
receptor signaling pathway via JAK-STAT  (IMP)
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)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
1-minute APGAR score of 1  (IAGP)
5-minute APGAR score of 1  (IAGP)
Abnormal antihelix morphology  (IAGP)
Abnormal cardiovascular system morphology  (IAGP)
Abnormal clavicle morphology  (IAGP)
Abnormal dental enamel morphology  (IAGP)
Abnormal digit morphology  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal femur morphology  (IAGP)
Abnormal form of the vertebral bodies  (IAGP)
Abnormal hair pattern  (IAGP)
Abnormal iliac wing morphology  (IAGP)
Abnormal lacrimal duct morphology  (IAGP)
Abnormal lacrimal gland morphology  (IAGP)
Abnormal metacarpal morphology  (IAGP)
Abnormal metaphysis morphology  (IAGP)
Abnormal midface morphology  (IAGP)
Abnormal palate morphology  (IAGP)
Abnormal pelvic girdle bone morphology  (IAGP)
Abnormal pinna morphology  (IAGP)
Abnormal sacroiliac joint morphology  (IAGP)
Abnormal sacrum morphology  (IAGP)
Abnormal salivary gland morphology  (IAGP)
Abnormal skull morphology  (IAGP)
Abnormal thumb morphology  (IAGP)
Abnormality of body height  (IAGP)
Abnormality of lower limb joint  (IAGP)
Abnormality of neuronal migration  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the elbow  (IAGP)
Abnormality of the eye  (IAGP)
Abnormality of the kidney  (IAGP)
Abnormality of the nervous system  (IAGP)
Absent lacrimal punctum  (IAGP)
Absent thumb  (IAGP)
Acanthosis nigricans  (IAGP)
Alacrima  (IAGP)
Amblyopia  (IAGP)
Anosmia  (IAGP)
Anteverted nares  (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)
Arthritis  (IAGP)
Atrial septal defect  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autistic behavior  (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)
Bladder neoplasm  (IAGP)
Blepharospasm  (IAGP)
Bowed humerus  (IAGP)
Bowel incontinence  (IAGP)
Bowing of the legs  (IAGP)
Bowing of the long bones  (IAGP)
Brachycephaly  (IAGP)
Brachydactyly  (IAGP)
Brain abscess  (IAGP)
Brain atrophy  (IAGP)
Brain stem compression  (IAGP)
Breech presentation  (IAGP)
Broad femoral metaphyses  (IAGP)
Broad forehead  (IAGP)
Broad hallux  (IAGP)
Broad thumb  (IAGP)
Camptodactyly  (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)
Cerebellar hypoplasia  (IAGP)
Cervical spinal canal stenosis  (IAGP)
Cervix cancer  (IAGP)
Champagne cork sign  (IAGP)
Chiari malformation  (IAGP)
Childhood onset short-limb short stature  (IAGP)
Choanal atresia  (IAGP)
Choanal stenosis  (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)
Congenital onset  (IAGP)
Congestive heart failure  (IAGP)
Conical tooth  (IAGP)
Conjunctivitis  (IAGP)
Convex nasal ridge  (IAGP)
Corneal neovascularization  (IAGP)
Corneal ulceration  (IAGP)
Coronal craniosynostosis  (IAGP)
Craniofacial dysostosis  (IAGP)
Craniosynostosis  (IAGP)
Cryptorchidism  (IAGP)
Cupped ear  (IAGP)
Death in infancy  (IAGP)
Decreased corneal sensation  (IAGP)
Decreased fetal movement  (IAGP)
Delayed cranial suture closure  (IAGP)
Dental malocclusion  (IAGP)
Depressed nasal bridge  (IAGP)
Disproportionate short stature  (IAGP)
Disproportionate short-limb short stature  (IAGP)
Downslanted palpebral fissures  (IAGP)
Duplication of thumb phalanx  (IAGP)
Dysphagia  (IAGP)
Elevated circulating alpha-fetoprotein concentration  (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)
Exostoses  (IAGP)
Exotropia  (IAGP)
External ear malformation  (IAGP)
Facial asymmetry  (IAGP)
Feeding difficulties  (IAGP)
Femoral bowing  (IAGP)
Fibular bowing  (IAGP)
Finger syndactyly  (IAGP)
Flared metaphysis  (IAGP)
Flat acetabular roof  (IAGP)
Flat face  (IAGP)
Focal impaired awareness seizure  (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)
Hepatoblastoma  (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)
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)
Hypoplastic ilia  (IAGP)
Hypoplastic pelvis  (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)
Irregular menstruation  (IAGP)
Joint hyperflexibility  (IAGP)
Joint stiffness  (IAGP)
Juvenile onset  (IAGP)
Keratoconjunctivitis  (IAGP)
Keratoconjunctivitis sicca  (IAGP)
Knee joint hypermobility  (IAGP)
Kyphosis  (IAGP)
Lacrimal duct aplasia  (IAGP)
Lacrimal duct atresia  (IAGP)
Lacrimal gland aplasia  (IAGP)
Late first trimester onset  (IAGP)
Lethal short-limbed short stature  (IAGP)
Limb undergrowth  (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)
Narrow vertebral interpedicular distance  (IAGP)