MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
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Dwarfism (D004392)
Parent Node:
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Osteochondrodysplasias (D010009)
..Starting node
..expand
Achondroplasia (D000130)

       Child Nodes:
........expandAchondrogenesis type 1A (C536015)
........expandAchondrogenesis type 1B (C536016)
........expandAchondrogenesis type 2 (C536017)
........expandAchondrogenesis, type 3 (C536018)
........expandAchondrogenesis, type 4 (C536019)
........expandAchondroplasia and Swiss type agammaglobulinemia (C536020)
........expandAchondroplastic dwarfism (C531599)
........expandBaby rattle pelvic dysplasia (C537794)
........expandDyssegmental dysplasia, Rolland-Desbuquois type (C537999)
........expandPseudoachondroplasia (C535819)
........expandPseudoachondroplastic dysplasia 2 (C535820)
........expandShort-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency (C565984)
........expandThanatophoric Dysplasia (D013796) Child8



 Sister Nodes: 
..expandAchondrogenesis (C579878)
..expandAchondroplasia (D000130) Child21
..expandAcquired Hyperostosis Syndrome (D020083)
..expandAcrodysostosis (C538179)
..expandAcrodysplasia scoliosis (C538180)
..expandAcrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia (C538181)
..expandAcromesomelic dysplasia (C535658) Child1
..expandAcromesomelic dysplasia Campailla-Martinelli type (C535659)
..expandAcropectorovertebral Dysplasia, F-Form (C566319)
..expandAkaba Hayasaka syndrome (C535609)
..expandAnauxetic dysplasia (C538256)
..expandAtelosteogenesis type 2 (C535395)
..expandAtelosteogenesis Type 3 (C579928)
..expandAtelosteogenesis, type 1 (C535396)
..expandATELOSTEOGENESIS, TYPE III (OMIM:108721)
..expandAuriculoosteodysplasia (C538271)
..expandBoomerang dysplasia (C536573)
..expandBrachyolmia (C537098)
..expandBrachyolmia Type 2 (C563218)
..expandBrachyolmia Type 3 (C562963)
..expandBrachyolmia, recessive Hobaek type (C537099)
..expandCamurati-Engelmann Syndrome (D003966) Child4
..expandCantu syndrome (C535572)
..expandCartilage hair hypoplasia like syndrome (C535915)
..expandCartilage-hair hypoplasia (C535916)
..expandCATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
..expandChondrodysplasia Calcificans Metaphysealis (C565855)
..expandChondrodysplasia Punctata (D002806) Child13
..expandCHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE (OMIM:614078)
..expandCHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA (OMIM:300863)
..expandChondrodysplasia, blomstrand type (C537914)
..expandChondrodysplasia, Grebe type (C537915)
..expandChondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density (C563330)
..expandChondrodysplasia, Megarbane-Dagher-Melki Type (C567644)
..expandCleidocranial Dysplasia (D002973) Child5
..expandCleidorhizomelic syndrome (C536428)
..expandCloverleaf skull micromelia thoracic dysplasia (C536429)
..expandCODAS syndrome (C536434)
..expandCollagenopathy, type 2 alpha 1 (C535964)
..expandColoboma of Alar-nasal cartilages with telecanthus (C535967)
..expandCombined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia (C564307)
..expandCraniodiaphyseal Dysplasia (C562940)
..expandCraniodiaphyseal Dysplasia, Autosomal Dominant (C567275)
..expandCzech dysplasia, metatarsal type (C535766)
..expandDyggve-Melchior-Clausen syndrome (C535726)
..expandDyschondrosteosis and Nephritis (C565080)
..expandEiken Skeletal Dysplasia (C564010)
..expandEllis-Van Creveld Syndrome (D004613) Child6
..expandEnchondromatosis (D004687)
..expandEPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE (OMIM:615923)
..expandEpiphyseal Dysplasia of Femoral Head, Myopia, and Deafness (C565585)
..expandEpiphyseal Dysplasia, Baumann Type (C563664)
..expandEpiphyseal dysplasia, multiple, 1 (C535501)
..expandEpiphyseal dysplasia, multiple, 2 (C535502)
..expandEpiphyseal dysplasia, multiple, 3 (C535503)
..expandEpiphyseal dysplasia, multiple, 4 (C535504)
..expandEpiphyseal dysplasia, multiple, 5 (C535505)
..expandEPIPHYSEAL DYSPLASIA, MULTIPLE, 6 (OMIM:614135)
..expandEpiphyseal Dysplasia, Multiple, with Miniepiphyses (C563735)
..expandEpiphyseal Dysplasia, Multiple, with Myopathy (C563420)
..expandEpiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness (C565046)
..expandEpiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia (C563736)
..expandFairbank disease (C536393)
..expandFaye-Petersen Ward Carey syndrome (C537076)
..expandFibrous Dysplasia of Bone (D005357) Child9
..expandFraser Jequier Chen syndrome (C535481)
..expandFrontometaphyseal dysplasia (C538064)
..expandFrontootopalatodigital Osteodysplasia (C567578)
..expandGhosal Hematodiaphyseal Dysplasia (C565551)
..expandHEM dysplasia (C535858) Child1
..expandHeterotopia, Periventricular Nodular, with Frontometaphyseal Dysplasia (C564725)
..expandHip Dysplasia, Beukes Type (C564185)
..expandHyperostosis Frontalis Interna (D006957) Child1
..expandHyperostosis, Cortical, Congenital (D006958) Child6
..expandHypochondrogenesis (C563007)
..expandHypoparathyroidism-retardation-dysmorphism syndrome (C537157)
..expandIMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
..expandIntrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies (C564543)
..expandJansen type metaphyseal chondrodysplasia (C537564)
..expandJequier Kozlowski skeletal dysplasia (C537569)
..expandKashin-Beck Disease (D057767)
..expandKniest dysplasia (C537207)
..expandKniest-Like Dysplasia with Pursed Lips and Ectopia Lentis (C565452)
..expandKozlowski Tsuruta Taki syndrome (C537510)
..expandLanger mesomelic dysplasia (C537267)
..expandLanger-Giedion Syndrome (D015826) Child2
..expandLaplane Fontaine Lagardere syndrome (C537869)
..expandLarsen Syndrome (C580241)
..expandLarsen syndrome, dominant type (C537873)
..expandLarsen-Like Syndrome (C563914)
..expandLeri-Weil syndrome (C537119)
..expandLeukoencephalopathy With Metaphyseal Chondrodysplasia (C567065)
..expandLowry Wood syndrome (C537038)
..expandMacrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies (C564621)
..expandMadelung Deformity (C562398)
..expandMarshall syndrome (C536025)
..expandMegaepiphyseal dwarfism (C536140) Child1
..expandMental Retardation, Skeletal Dysplasia, and Abducens Palsy (C564101)
..expandMesomelic Dwarfism of Hypoplastic Tibia and Radius Type (C563589)
..expandMesomelic dwarfism Reinhardt Pfeiffer type (C537349)
..expandMesomelic Dysplasia, Savarirayan Type (C565349)
..expandMetaphyseal anadysplasia (C537351)
..expandMetaphyseal Anadysplasia 1 (C567545)
..expandMetaphyseal Anadysplasia 2 (C567771)
..expandMetaphyseal chondrodysplasia Schmid type (C537352)
..expandMetaphyseal chondrodysplasia Spahr type (C537353)
..expandMetaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands (C537354)
..expandMetaphyseal Chondrodysplasia with Retinitis Pigmentosa (C565398)
..expandMetaphyseal Chondrodysplasia, Kaitila Type (C565400)
..expandMetaphyseal Chondrodysplasia, Pena Type (C565399)
..expandMetaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly (C563586)
..expandMetaphyseal Dysplasia without Hypotrichosis (C563574)
..expandMetaphyseal Dysplasia, Anetoderma, and Optic Atrophy (C565395)
..expandMetaphyseal Dysplasia, Braun-Tinschert Type (C565271)
..expandMetaphyseal undermodeling, spondylar dysplasia, and overgrowth (C537355)
..expandMetatropic dwarfism (C537356)
..expandMetatropic Dwarfism, Type II (C581628)
..expandMicrocephalic osteodysplastic primordial dwarfism, type 1 (C537577)
..expandMicrocephalic Osteodysplastic Primordial Dwarfism, Type II (C565898)
..expandMicrocephaly-Micromelia Syndrome (C565382)
..expandMicromelic dwarfism Fryns type (C537556)
..expandMicromelic dysplasia, congenital, with dislocation of radius (C537557)
..expandMultiple Congenital Anomalies Syndrome with Cloverleaf Skull (C564611)
..expandMultiple Epiphyseal Dysplasia with Robin Phenotype (C563291)
..expandNievergelt syndrome (C536120)
..expandNivelon Nivelon Mabille syndrome (C536123)
..expandOmodysplasia 2 (C567664)
..expandOmodysplasia type 1 (C537746)
..expandOpsismodysplasia (C537122)
..expandOsebold Skeletal Dysplasia Osteolysis Syndrome (C566380)
..expandOsteoarthritis with Mild Chondrodysplasia (C565740)
..expandOSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
..expandOsteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension (C563478)
..expandOsteochondroma (D015831) Child17
..expandOsteodysplasia, Familial, Anderson Type (C564923)
..expandOsteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski (C564922)
..expandOsteogenesis Imperfecta (D010013) Child27
..expandOsteoglophonic dwarfism (C536050)
..expandOsteosclerosis (D010026) Child36
..expandOto-Palato-digital syndrome type 1 (C536065)
..expandOto-palato-digital syndrome, type 2 (C538089)
..expandOtopalatodigital Spectrum Disorder (C567577)
..expandOTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:215150)
..expandPelvis-Shoulder Dysplasia (C566811)
..expandPierre Robin syndrome with fetal chondrodysplasia (C535776)
..expandPolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (C536329)
..expandPolydysspondyly (C565150)
..expandPubic Bone Dysplasia (C566735)
..expandPycnodysostosis (D058631)
..expandPyle disease (C536252)
..expandRoifman syndrome (C535866)
..expandSchaefer Stein Oshman syndrome (C536627)
..expandSchimke immunoosseous dysplasia (C536629)
..expandSchneckenbecken dysplasia (C536637)
..expandShort Rib-Polydactyly Syndrome (D012779) Child3
..expandShort stature syndrome, Brussels type (C537121)
..expandSitus inversus totalis with cystic dysplasia of kidneys and pancreas (C536666)
..expandSketetal dysplasia coarse facies mental retardation (C536671)
..expandSlipped Capital Femoral Epiphyses (D060048)
..expandSmith-McCort Dysplasia (C564589)
..expandSpinal Dysplasia, Anhalt Type (C563348)
..expandSpondylo-Megaepiphyseal-Metaphyseal Dysplasia (C567639)
..expandSpondylocheirodysplasia, Ehlers-Danlos Syndrome-Like (C567340)
..expandSpondylodysplasia And Premature Pubarche (C567552)
..expandSpondyloenchondrodysplasia (C535782)
..expandSpondyloepimetaphyseal Dysplasia With Abnormal Dentition (C566644)
..expandSpondyloepimetaphyseal dysplasia with hypotrichosis (C535783)
..expandSpondyloepimetaphyseal Dysplasia With Joint Laxity (C562968)
..expandSpondyloepimetaphyseal dysplasia with multiple dislocations (C535784)
..expandSpondyloepimetaphyseal dysplasia, Genevieve type (C535785)
..expandSpondyloepimetaphyseal Dysplasia, Irapa Type (C562958)
..expandSpondyloepimetaphyseal Dysplasia, Matrilin-3 Related (C563869)
..expandSpondyloepimetaphyseal Dysplasia, Missouri Type (C566574)
..expandSpondyloepimetaphyseal Dysplasia, Pakistani Type (C567551)
..expandSpondyloepimetaphyseal Dysplasia, Shohat Type (C566523)
..expandSpondyloepimetaphyseal dysplasia, sponastrime type (C535786)
..expandSpondyloepimetaphyseal Dysplasia, X-Linked (C564714)
..expandSpondyloepiphyseal Dysplasia Tarda with Characteristic Facies (C564003)
..expandSpondyloepiphyseal Dysplasia Tarda with Mental Retardation (C564796)
..expandSpondyloepiphyseal Dysplasia Tarda, Autosomal Dominant (C566658)
..expandSpondyloepiphyseal Dysplasia Tarda, Autosomal Recessive (C564797)
..expandSpondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type (C563772)
..expandSpondyloepiphyseal dysplasia tarda, Toledo type (C535787)
..expandSpondyloepiphyseal Dysplasia with Atlantoaxial Instability (C563472)
..expandSpondyloepiphyseal Dysplasia With Coronal Craniosynostosis, Cataracts, Cleft Palate, And Mental Retardation (C566515)
..expandSpondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy (C566660)
..expandSpondyloepiphyseal dysplasia, congenita (C535788)
..expandSpondyloepiphyseal Dysplasia, Kimberley Type (C564252)
..expandSPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE (OMIM:184095)
..expandSpondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness (C566659)
..expandSpondyloepiphyseal dysplasia, Omani type (C535789) Child1
..expandSpondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech (C567128)
..expandSpondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness (C566507)
..expandSpondylometaepiphyseal Dysplasia, Short Limb-Hand Type (C564794)
..expandSpondylometaphyseal dysplasia with bowed forearms and facial dysmorphism (C535791)
..expandSpondylometaphyseal Dysplasia with Cone-Rod Dystrophy (C563825)
..expandSpondylometaphyseal dysplasia with dentinogenesis imperfecta (C535792)
..expandSpondylometaphyseal dysplasia, 'corner fracture' type (C535793)
..expandSpondylometaphyseal dysplasia, Algerian type (C535794)
..expandSpondylometaphyseal dysplasia, axial (C535795)
..expandSpondylometaphyseal dysplasia, east-African type (C535796)
..expandSpondylometaphyseal dysplasia, Kozlowski type (C535797)
..expandSpondylometaphyseal dysplasia, Sedaghatian type (C535798)
..expandSpondylometaphyseal Dysplasia, Type A4 (C563803)
..expandSpondylometaphyseal Dysplasia, X-Linked (C563124)
..expandSpondyloocular Syndrome, Autosomal Recessive (C565285)
..expandSPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
..expandSpondyloperipheral dysplasia short ulna (C535799)
..expandSpondylospinal Thoracic Dysostosis (C566622)
..expandStrudwick syndrome (C537501)
..expandStuve-Wiedemann syndrome (C537502)
..expandTeebi Naguib Al Awadi syndrome (C536949)
..expandTer Haar syndrome (C537274)
..expandTERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
..expandTerminal Osseous Dysplasia and Pigmentary Defects (C564554)
..expandThoracolaryngopelvic dysplasia (C536517)
..expandTracheobronchopathia osteoplastica (C536977)
..expandTrichoscyphodysplasia (C536557)
..expandUlna metaphyseal dysplasia syndrome (C536935)
..expandUpington disease (C536472)
..expandVan Buchem disease type 2 (C536527)
..expandVerloes Bourguignon syndrome (C536538)
..expandVerloes Van Maldergem Marneffe syndrome (C536540)
..expandVitreoretinopathy with Phalangeal Epiphyseal Dysplasia (C565179)
..expandWolcott-Rallison syndrome (C536739)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:148
Name:Achondroplasia
Definition:An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)
Alternative IDs:DO:DOID:0111158|DO:DOID:4480|OMIM:100800|OMIM:616482
ParentIDs:MESH:D004392|MESH:D010009
TreeNumbers:C05.116.099.343.110 |C05.116.099.708.017 |C16.320.240.500
Synonyms:ACH |Achondroplasias |Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |Dysplasia, SADDAN |Dysplasias, SADDAN |SADDAN |SADDAN Dysplasia |SADDAN Dysplasias |SADDANs |Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans |S
Slim Mappings:Genetic disease (inborn)|Musculoskeletal disease
Reference: MedGen: D000130
MeSH: D000130
OMIM: 100800;
MSeqDR LSDB:  
Genes: FGFR3; GNAT2;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001156Brachydactyly
3 HP:0002512Brain stem compression
4 HP:0000405Conductive hearing impairment
5 HP:0005280Depressed nasal bridge
6 HP:0003015Flared metaphysis
7 HP:0002007Frontal bossing
8 HP:0002761Generalized joint laxity
9 HP:0002970Genu varum
10 HP:0000238HydrocephalusHP:0040283
11 HP:0008947Infantile muscular hypotonia
12 HP:0001377Limited elbow extension
13 HP:0003093Limited hip extension
14 HP:0002938Lumbar hyperlordosis
15 HP:0008414Lumbar kyphosis in infancy
16 HP:0000272Malar flattening
17 HP:0001355Megalencephaly
18 HP:0011800Midface retrusion
19 HP:0001270Motor delay
20 HP:0008921Neonatal short-limb short stature
21 HP:0000403Recurrent otitis media
22 HP:0008905Rhizomelia
23 HP:0100864Short femoral neck
24 HP:0002677Small foramen magnum
25 HP:0005733Spinal stenosis with reduced interpedicular distance
26 HP:0004060Trident hand
27 HP:0002781Upper airway obstruction
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000138.5(FBN1):c.1130G>A (p.Cys377Tyr)2200FBN1Likely pathogenic1597583989RCV000989335|RCV001805957|RCV001858706; NMONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700, Orphanet:284963, Orphanet:558|MONDO:MONDO:0007037,MedGen:C0001080,OMIM:100800, Orphanet:15|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387; MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700,Orp15488128734881287315:g.48812873C>T-
NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu)2261FGFR3Pathogenic/Likely pathogenic121913116RCV000017769|RCV000850610|RCV001334259|RCV002513086; NMONDO:MONDO:0007793,MedGen:C0410529,OMIM:146000, Orphanet:429|9 conditions|MONDO:MONDO:0007037,MedGen:C0001080,OMIM:100800, Orphanet:15|MedGen:CN5172024180112218011224:g.1801122C>TClinGen:CA341425,OMIM:134934.0032C0410529 146000 Hypochondroplasia;
NM_000142.5(FGFR3):c.616-6G>A2261FGFR3Conflicting interpretations of pathogenicity17883400RCV000245965|RCV000960660|RCV001334260; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007037,MedGen:C0001080,OMIM:100800, Orphanet:154180334118033414:g.1803341G>AClinGen:CA2809904CN169374 not specified;
NM_000142.5(FGFR3):c.835A>T (p.Ser279Cys)2261FGFR3Pathogenic/Likely pathogenic121913114RCV000017766|RCV000017767|RCV000730955; NMONDO:MONDO:0007037,MedGen:C0001080,OMIM:100800, Orphanet:15|MONDO:MONDO:0007793,MedGen:C0410529,OMIM:146000, Orphanet:429|MedGen:CN5172024180365718036574:g.1803657A>TClinGen:CA280224,OMIM:134934.0030C0001080 100800 Achondroplasia;
NM_000142.5(FGFR3):c.989C>T (p.Thr330Ile)2261FGFR3Uncertain significance1721503041RCV002241477|RCV002286827; NMedGen:C3661900|MONDO:MONDO:0007037,MedGen:C0001080,OMIM:100800, Orphanet:154180547718054774:g.1805477C>T-
NM_000142.5(FGFR3):c.1031C>G (p.Ser344Cys)2261FGFR3Conflicting interpretations of pathogenicity-1RCV002651792|RCV003404135; NMedGen:C3661900|MONDO:MONDO:0007037,MedGen:C0001080,OMIM:100800, Orphanet:15418055191805519NC_000004.11:g.1805519C>G-
NM_000142.5(FGFR3):c.1075+95C>G2261FGFR3Pathogenic-1RCV003444541; NMONDO:MONDO:0007037,MedGen:C0001080,OMIM:100800, Orphanet:15; MONDO:MONDO:0007793,MedGen:C0410529,OMIM:146000, Orphanet:429418056581805658-
NM_000142.5(FGFR3):c.1123G>T (p.Gly375Cys)2261FGFR3Pathogenic75790268RCV000017727|RCV002228031; YMONDO:MONDO:0007037,MedGen:C0001080,OMIM:100800, Orphanet:15|MedGen:C36619004180610418061044:g.1806104G>TUniProtKB:P22607#VAR_004154,OMIM:134934.0003,ClinGen:CA280219C0001080 100800 Achondroplasia;
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg)2261FGFR3Pathogenic28931614RCV000017724|RCV000029207|RCV000255750|RCV000763121|RCV001266979|RCV001731310|RCV001807732|RCV002276551|RCV003227605|RCV003335043; YMONDO:MONDO:0007037,MedGen:C0001080,OMIM:100800, Orphanet:15|Human Phenotype Ontology:HP:0010816,MONDO:MONDO:0008093,MedGen:C0334082,OMIM:162900, Orphanet:79414|MedGen:C3661900|14 conditions|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:00077934180611918061194:g.1806119G>AClinVar:441276,ClinGen:CA129944,UniProtKB:P22607#VAR_004155,OMIM:134934.0001,OMIM:134934.0027C0001080 100800 Achondroplasia;
NM_000142.5(FGFR3):c.1138G>C (p.Gly380Arg)2261FGFR3Pathogenic28931614RCV000017725|RCV000727147|RCV000987394; YMONDO:MONDO:0007037,MedGen:C0001080,OMIM:100800, Orphanet:15|MedGen:C3661900|MONDO:MONDO:0007793,MedGen:C0410529,OMIM:146000, Orphanet:4294180611918061194:g.1806119G>CClinGen:CA280218,UniProtKB:P22607#VAR_004155,OMIM:134934.0002C0001080 100800 Achondroplasia;
NM_000142.5(FGFR3):c.1144G>A (p.Gly382Ser)2261FGFR3Likely pathogenic1360936268RCV001806350; NMONDO:MONDO:0007037,MedGen:C0001080,OMIM:100800, Orphanet:154180612518061251806125-
NM_000142.5(FGFR3):c.1183C>A (p.Leu395Ile)2261FGFR3Likely pathogenic2108797528RCV002227915; NMONDO:MONDO:0007037,MedGen:C0001080,OMIM:100800, Orphanet:154180616418061641806164-
NM_000142.5(FGFR3):c.1331C>T (p.Ser444Phe)2261FGFR3Uncertain significance761325047RCV000709871|RCV002532897; NMONDO:MONDO:0007037,MedGen:C0001080,OMIM:100800, Orphanet:15; MONDO:MONDO:0012504,MedGen:C1864852,OMIM:610474, Orphanet:85164; MONDO:MONDO:0007793,MedGen:C0410529,OMIM:146000, Orphanet:429; MONDO:MONDO:0007872,MedGen:C0265269,OMIM:PS149730, Orphanet:2363; MONDO418066151806615NC_000004.11:g.1806615C>T-
NM_000142.5(FGFR3):c.1606A>G (p.Lys536Glu)2261FGFR3Uncertain significance1721801068RCV001253746; NMONDO:MONDO:0007037,MedGen:C0001080,OMIM:100800, Orphanet:154180735718073574:g.1807357A>G-
NM_000142.5(FGFR3):c.1619A>G (p.Asn540Ser)2261FGFR3Conflicting interpretations of pathogenicity77722678RCV000017758|RCV000623459|RCV001269614|RCV002262566|RCV002273934; YMONDO:MONDO:0007793,MedGen:C0410529,OMIM:146000, Orphanet:429|MeSH:D030342,MedGen:C0950123|MedGen:CN517202|MONDO:MONDO:0007037,MedGen:C0001080,OMIM:100800, Orphanet:15|Human Phenotype Ontology:HP:0012758,MedGen:C40227384180737018073704:g.1807370A>GClinGen:CA341420,UniProtKB:P22607#VAR_018389,OMIM:134934.0023C0410529 146000 Hypochondroplasia;
NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys)2261FGFR3Pathogenic28933068RCV000017740|RCV000255928|RCV000353403|RCV002273932; YMONDO:MONDO:0007793,MedGen:C0410529,OMIM:146000, Orphanet:429|MedGen:C3661900|MONDO:MONDO:0007037,MedGen:C0001080,OMIM:100800, Orphanet:15|Human Phenotype Ontology:HP:0012758,MedGen:C40227384180737118073714:g.1807371C>AClinVar:441277,ClinGen:CA341410,UniProtKB:P22607#VAR_004158,OMIM:134934.0010,OMIM:134934.0034C0001080 100800 Achondroplasia;
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