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achondroplasia - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:achondroplasia
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Accession:DOID:4480 term browser browse the term
Definition:An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone. (DO)
Synonyms:exact_synonym: ACH;   achondroplasias;   achondroplastic physique;   chondrodystrophia;   osteosclerosis congenita;   skeleton-skin-brain syndrome;   skeleton-skin-brain syndromes
 xref: EFO:0004121;   GARD:8173;   ICD10CM:Q77.4;   MESH:D000130;   MIM:100800;   MONDO:0007037;   NCI:C34345;   ORDO:15
For additional species annotation, visit the Alliance of Genome Resources.

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show annotations for term's descendants           Sort by:
achondroplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acan aggrecan ISO OMIM:100800 MouseDO NCBI chrNW_004936483:14,811,152...14,846,305
Ensembl chrNW_004936483:14,811,152...14,846,305 		JBrowse link
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase ISO ClinVar Annotator: match by term: Achondroplasia ClinVar PMID:25741868 NCBI chrNW_004936490:16,834,570...16,841,734
Ensembl chrNW_004936490:16,834,540...16,841,810 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Achondroplasia ClinVar PMID:16571647 PMID:16905551 PMID:17701892 PMID:19349279 PMID:25741868 More... NCBI chrNW_004936471:10,747,030...10,969,223
Ensembl chrNW_004936471:10,746,996...10,969,231 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 severity ISO ClinVar Annotator: match by term: Achondroplasia | ClinVar Annotator: match by term: Skeleton skin brain syndrome
DNA:mutation:cds:p.K650M(human)		 OMIM
ClinVar
RGD		 PMID:1908846 PMID:4697848 PMID:7647778 PMID:7649548 PMID:7670477 More... RGD:11568054 NCBI chrNW_004936477:21,591,772...21,606,289
Ensembl chrNW_004936477:21,591,792...21,606,296 		JBrowse link
G Nppc natriuretic peptide C ISO OMIM:100800 MouseDO NCBI chrNW_004936525:5,092,675...5,099,344
Ensembl chrNW_004936525:5,092,635...5,099,331 		JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO DNA:missense mutation:cds:p.L885R (mouse)
OMIM:100800		 RGD
MouseDO		 PMID:15722353 RGD:1580771 NCBI chrNW_004936524:3,779,398...3,798,074
Ensembl chrNW_004936524:3,779,392...3,798,501 		JBrowse link
G Pthlh parathyroid hormone like hormone ISO OMIM:100800 MouseDO NCBI chrNW_004936760:197,525...209,212
Ensembl chrNW_004936760:197,525...209,518 		JBrowse link
G Spred2 sprouty related EVH1 domain containing 2 ISO OMIM:100800 MouseDO NCBI chrNW_004936491:10,053,546...10,170,950
Ensembl chrNW_004936491:10,053,545...10,170,976 		JBrowse link
achondrogenesis type IA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asb2 ankyrin repeat and SOCS box containing 2 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004936733:1,813,569...1,849,805
Ensembl chrNW_004936733:1,813,548...1,849,806 		JBrowse link
G Atxn3 ataxin 3 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004936733:306,400...347,161
Ensembl chrNW_004936733:310,836...347,112 		JBrowse link
G Btbd7 BTB domain containing 7 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004936733:1,157,143...1,217,111
Ensembl chrNW_004936733:1,153,955...1,266,934 		JBrowse link
G Calm1 calmodulin 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004936488:17,580,425...17,588,480
Ensembl chrNW_004936488:17,580,454...17,588,507 		JBrowse link
G Catsperb cation channel sperm associated auxiliary subunit beta ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004936488:18,501,602...18,595,781 JBrowse link
G Ccdc88c coiled-coil domain containing 88C ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004936488:18,288,504...18,402,125
Ensembl chrNW_004936488:18,289,651...18,402,115 		JBrowse link
G Chga chromogranin A ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004936733:915,700...927,220
Ensembl chrNW_004936733:915,830...927,409 		JBrowse link
G Cpsf2 cleavage and polyadenylation specific factor 2 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004936733:367,082...397,242
Ensembl chrNW_004936733:367,109...397,242 		JBrowse link
G Ddx24 DEAD-box helicase 24 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004936733:1,913,439...1,932,027
Ensembl chrNW_004936733:1,913,437...1,932,869 		JBrowse link
G Dglucy D-glutamate cyclase ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004936488:18,201,543...18,253,261 JBrowse link
G Fam181a family with sequence similarity 181 member A ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004936733:1,808,204...1,810,451
Ensembl chrNW_004936733:1,808,476...1,810,141 		JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004936733:136,374...200,106
Ensembl chrNW_004936733:137,207...209,473 		JBrowse link
G Golga5 golgin A5 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004936733:831,247...867,207
Ensembl chrNW_004936733:831,076...867,207 		JBrowse link
G Gon7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004936733:1,109,456...1,127,176
Ensembl chrNW_004936733:1,124,039...1,127,566 		JBrowse link
G Gpr68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004936488:18,257,765...18,278,530
Ensembl chrNW_004936488:18,259,866...18,260,993 		JBrowse link
G Ifi27l2 interferon alpha inducible protein 27 like 2 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004936733:1,964,545...1,966,157
Ensembl chrNW_004936733:1,961,616...1,966,265 		JBrowse link
G Itpk1 inositol-tetrakisphosphate 1-kinase ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004936733:930,986...1,064,223
Ensembl chrNW_004936733:930,972...1,064,229 		JBrowse link
G Kcnk13 potassium two pore domain channel subfamily K member 13 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004936488:17,410,165...17,411,040
Ensembl chrNW_004936488:17,322,431...17,411,923 		JBrowse link
G Lgmn legumain ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004936733:772,764...792,792
Ensembl chrNW_004936733:772,708...792,995 		JBrowse link
G LOC101973017 corticosteroid-binding globulin ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004936733:2,141,484...2,148,129
Ensembl chrNW_004936733:2,141,392...2,148,151 		JBrowse link
G Lyset lysosomal enzyme trafficking factor ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004936733:1,113,681...1,115,446
Ensembl chrNW_004936733:1,113,755...1,118,094 		JBrowse link
G Moap1 modulator of apoptosis 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004936733:1,111,256...1,113,651
Ensembl chrNW_004936733:1,111,958...1,113,010 		JBrowse link
G Ndufb1 NADH:ubiquinone oxidoreductase subunit B1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532
G Nrde2 NRDE-2, necessary for RNA interference, domain containing ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004936488:17,473,787...17,519,278
Ensembl chrNW_004936488:17,473,607...17,519,536 		JBrowse link
G Otub2 OTU deubiquitinase, ubiquitin aldehyde binding 2 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004936733:1,891,198...1,913,389
Ensembl chrNW_004936733:1,891,132...1,909,392 		JBrowse link
G Ppp4r3a protein phosphatase 4 regulatory subunit 3A ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004936488:18,423,353...18,467,363
Ensembl chrNW_004936488:18,422,741...18,467,430 		JBrowse link
G Ppp4r4 protein phosphatase 4 regulatory subunit 4 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004936733:2,007,843...2,119,766
Ensembl chrNW_004936733:2,007,839...2,119,503 		JBrowse link
G Prima1 proline rich membrane anchor 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004936733:1,667,191...1,713,517
Ensembl chrNW_004936733:1,670,004...1,712,558 		JBrowse link
G Psmc1 proteasome 26S subunit, ATPase 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004936488:17,455,612...17,468,933
Ensembl chrNW_004936488:17,455,461...17,469,527 		JBrowse link
G Rin3 Ras and Rab interactor 3 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004936733:683,309...765,897
Ensembl chrNW_004936733:683,272...765,906 		JBrowse link
G Rps6ka5 ribosomal protein S6 kinase A5 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004936488:17,937,421...18,132,845
Ensembl chrNW_004936488:17,940,327...18,132,970 		JBrowse link
G Serpina10 serpin family A member 10 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004936733:2,121,875...2,129,988 JBrowse link
G Slc24a4 solute carrier family 24 member 4 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004936733:515,546...639,699
Ensembl chrNW_004936733:515,510...639,705 		JBrowse link
G Tc2n tandem C2 domains, nuclear ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004936733:70,608...106,247
Ensembl chrNW_004936733:72,304...99,767 		JBrowse link
G Tdp1 tyrosyl-DNA phosphodiesterase 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004936488:17,237,002...17,311,325
Ensembl chrNW_004936488:17,236,703...17,311,310 		JBrowse link
G Trip11 thyroid hormone receptor interactor 11 ISO ClinVar Annotator: match by term: Achondrogenesis Houston-Harris type | ClinVar Annotator: match by term: Achondrogenesis type 1A | ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar
OMIM		 PMID:200899 PMID:2008997 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chrNW_004936733:233,723...300,150
Ensembl chrNW_004936733:234,531...299,639 		JBrowse link
G Ttc7b tetratricopeptide repeat domain 7B ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004936488:17,673,852...17,882,229
Ensembl chrNW_004936488:17,674,321...17,882,715 		JBrowse link
G Ubr7 ubiquitin protein ligase E3 component n-recognin 7 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004936733:1,127,150...1,147,192
Ensembl chrNW_004936733:1,127,145...1,147,210 		JBrowse link
G Unc79 unc-79 homolog, NALCN channel complex subunit ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004936733:1,387,951...1,657,176
Ensembl chrNW_004936733:1,388,163...1,656,184 		JBrowse link
achondrogenesis type IB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a2 solute carrier family 26 member 2 ISO ClinVar Annotator: match by term: Achondrogenesis Fraccaro type | ClinVar Annotator: match by term: Achondrogenesis, type IB OMIM
ClinVar		 PMID:4644462 PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 More... NCBI chrNW_004936504:4,990,996...5,005,658
Ensembl chrNW_004936504:4,991,080...5,005,877 		JBrowse link
achondrogenesis type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Achondrogenesis type II | ClinVar Annotator: match by term: Chondrogenesis imperfecta OMIM
ClinVar		 PMID:1429602 PMID:7550321 PMID:7695699 PMID:7752132 PMID:7757081 More... NCBI chrNW_004936512:5,861,933...5,894,898
Ensembl chrNW_004936512:5,861,933...5,892,853 		JBrowse link
Achondroplastic Dwarfism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Achondroplastic dwarfism ClinVar PMID:1908846 PMID:4697848 PMID:7647778 PMID:7649548 PMID:7670477 More... NCBI chrNW_004936477:21,591,772...21,606,289
Ensembl chrNW_004936477:21,591,792...21,606,296 		JBrowse link
pseudoachondroplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Comp cartilage oligomeric matrix protein ISO ClinVar Annotator: match by term: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome OMIM
ClinVar		 PMID:7670471 PMID:7670472 PMID:9463320 PMID:9632164 PMID:9756911 More... NCBI chrNW_004936596:2,544,389...2,551,155
Ensembl chrNW_004936596:2,544,389...2,551,164 		JBrowse link
SADDAN term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: SADDAN dysplasia | ClinVar Annotator: match by term: Severe achondroplasia with developmental delay and acanthosis nigricans OMIM
ClinVar		 PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More... NCBI chrNW_004936477:21,591,772...21,606,289
Ensembl chrNW_004936477:21,591,792...21,606,296 		JBrowse link
Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Short-limb skeletal dysplasia with severe combined immunodeficiency ClinVar PMID:25741868 NCBI chrNW_004936483:15,430,735...15,450,872
Ensembl chrNW_004936483:15,431,470...15,449,067 		JBrowse link
thanatophoric dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Thanatophoric dwarfism ClinVar PMID:7773297 PMID:8599935 PMID:8754806 PMID:8845844 PMID:9207791 More... NCBI chrNW_004936477:21,591,772...21,606,289
Ensembl chrNW_004936477:21,591,792...21,606,296 		JBrowse link
G Hspg2 heparan sulfate proteoglycan 2 ISO OMIM:187600 | OMIM:187601 | OMIM:273680 MouseDO NCBI chrNW_004936474:7,407,622...7,478,950
Ensembl chrNW_004936474:7,408,518...7,467,851 		JBrowse link
Thanatophoric Dysplasia, Type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: LETHAL SHORT-LIMBED PLATYSPONDYLIC DWARFISM, SAN DIEGO TYPE OMIM
ClinVar		 PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More... NCBI chrNW_004936477:21,591,772...21,606,289
Ensembl chrNW_004936477:21,591,792...21,606,296 		JBrowse link
Thanatophoric Dysplasia, Type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: THANATOPHORIC DYSPLASIA WITH STRAIGHT FEMURS AND CLOVERLEAF SKULL | ClinVar Annotator: match by term: Thanatophoric dysplasia with Kleeblattschaedel | ClinVar Annotator: match by term: Thanatophoric dysplasia, type 2 OMIM
ClinVar		 PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More... NCBI chrNW_004936477:21,591,772...21,606,289
Ensembl chrNW_004936477:21,591,792...21,606,296 		JBrowse link
Torrance type platyspondylic dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4galt7 beta-1,4-galactosyltransferase 7 ISO ClinVar Annotator: match by term: Lethal skeletal dysplasia ClinVar PMID:1221956 PMID:1640425 PMID:15211654 PMID:18158310 PMID:20691685 More... NCBI chrNW_004936597:1,890,737...1,900,702
Ensembl chrNW_004936597:1,890,473...1,902,259 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Platyspondylic dysplasia, Torrance type | ClinVar Annotator: match by term: Thanatophoric dysplasia torrance variant OMIM
ClinVar		 PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 More... NCBI chrNW_004936512:5,861,933...5,894,898
Ensembl chrNW_004936512:5,861,933...5,892,853 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14638
    Developmental Disease 12850
      bone development disease 2259
        Dwarfism 822
          achondroplasia 53
            Achondrogenesis, Type 3 0
            Achondrogenesis, Type 4 0
            Achondroplasia and Swiss Type Agammaglobulinemia 0
            Achondroplastic Dwarfism 1
            Baby Rattle Pelvic Dysplasia 0
            Dyssegmental Dysplasia, Rolland-Desbuquois Type 0
            Pseudoachondroplastic Dysplasia 2 0
            SADDAN 1
            Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 1
            achondrogenesis type IA 39
            achondrogenesis type IB 1
            achondrogenesis type II 1
            pseudoachondroplasia 1
            thanatophoric dysplasia + 4
Path 2
Term Annotations click to browse term
  disease 14638
    disease of anatomical entity 14327
      musculoskeletal system disease 7552
        connective tissue disease 5159
          bone disease 3763
            bone development disease 2259
              osteochondrodysplasia 854
                achondroplasia 53
                  Achondrogenesis, Type 3 0
                  Achondrogenesis, Type 4 0
                  Achondroplasia and Swiss Type Agammaglobulinemia 0
                  Achondroplastic Dwarfism 1
                  Baby Rattle Pelvic Dysplasia 0
                  Dyssegmental Dysplasia, Rolland-Desbuquois Type 0
                  Pseudoachondroplastic Dysplasia 2 0
                  SADDAN 1
                  Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 1
                  achondrogenesis type IA 39
                  achondrogenesis type IB 1
                  achondrogenesis type II 1
                  pseudoachondroplasia 1
                  thanatophoric dysplasia + 4
paths to the root