Disease Browser
Parent Node: Ankylosis (D000844) Parent Node: Ear Diseases (D004427) Parent Node: Hyperopia (D006956) Parent Node: Syndactyly (D013576) ..Starting node .. STAPES ANKYLOSIS WITH BROAD THUMB AND TOES (OMIM:184460) Child Nodes:
Sister Nodes: ..Acrocephalosyndactylia (D000168) 11 ..Aphalangia syndactyly microcephaly (C537787) ..Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly (C566529) ..Aurocephalosyndactyly (C566235) ..Blepharophimosis with ptosis, syndactyly, and short stature (C536235) ..Bonneau Syndrome (C564875) ..Brachydactyly-Syndactyly Syndrome (C565193) ..Ectodermal dysplasia mental retardation syndactyly (C538018) ..ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 (OMIM:613573) ..ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2 (OMIM:613576) ..Eyebrows duplication of, with stretchable skin and syndactyly (C536383) ..Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome (C565436) ..Filippi syndrome (C538152) ..Frints De Smet Fabry Fryns syndrome (C538062) ..Gollop Coates syndrome (C537283) ..Green Sandford Davison syndrome (C538221) ..Kleiner Holmes syndrome (C536885) ..Kozlowski-Krajewska syndrome (C537615) ..Lacrimoauriculodentodigital syndrome (C538132) ..Landy Donnai syndrome (C537266) ..Martinez Monasterio Pinheiro syndrome (C536027) ..Naguib-Richieri-Costa syndrome (C538332) ..Oculodentodigital Dysplasia (C563160) ..Oculodentodigital Dysplasia, Autosomal Recessive (C567605) ..Oculodentoosseous dysplasia recessive (C537733) ..Orofacial Cleft 7 (C563464) ..Orstavik Lindemann Solberg syndrome (C537137) ..Pavone Fiumara Rizzo syndrome (C536313) ..Pfeiffer Rockelein syndrome (C537890) ..Piepkorn Karp Hickok syndrome (C535774) ..Poland Syndrome (D011045) ..Polydactyly, Postaxial, Type A4 (C563909) ..Polysyndactyly, Crossed (C566773) ..Popliteal Pterygium Syndrome (C562509) ..Popliteal Pterygium Syndrome, Lethal Type (C564874) ..Radio-ulnar synostosis type 1 (C536268) ..Radio-ulnar synostosis type 2 (C536269) ..Rosselli-Gulienetti Syndrome (C563117) ..Sclerosteosis (C537525) ..Scott Bryant Graham syndrome (C537528) ..Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly (C567093) ..STAPES ANKYLOSIS WITH BROAD THUMB AND TOES (OMIM:184460) ..Syndactyly Cenani Lenz type (C538150) ..Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction (C563721) ..Syndactyly, type 2 (C538153) ..Syndactyly, type 3 (C538154) ..Syndactyly, Type I (C566096) ..Syndactyly, Type IV (C566092) ..Syndactyly, type v (C538155) ..Syndactyly-Polydactyly-Earlobe Syndrome (C566091) ..Synpolydactyly 1 (C566094) ..Timothy syndrome (C536962) ..Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations (C567475) ..Trueb Burg Bottani syndrome (C536565) ..Winter Shortland Temple syndrome (C536735) ..Zerres Rietschel Majewski syndrome (C536724) ..Zlotogora-Ogur syndrome (C536726) ..Zygodactyly 1 (C565223) Human Disease MESH is developed by UMLS . Further data from MedGen , OMIM , CTD
Term ID: 10639
Name: STAPES ANKYLOSIS WITH BROAD THUMB AND TOES
Definition:
Alternative IDs:
ParentIDs: MESH:D000844|MESH:D004427|MESH:D006956|MESH:D013576
TreeNumbers: C05.116.099.370.894.819/184460 |C05.550.069/184460 |C05.660.585.800/184460 |C05.660.906.819/184460 |C09.218/184460 |C11.744.479/184460 |C16.131.621.585.800/184460 |C16.131.621.906.819/184460
Synonyms: ANKYLOSIS OF STAPES, HYPEROPIA, BROAD THUMBS, BROAD FIRST TOES, AND SYNDACTYLY |STAPES ANKYLOSIS SYNDROME WITHOUT SYMPHALANGISM |TEUNISSEN-CREMERS SYNDROME
Slim Mappings: Congenital abnormality|Ear-nose-throat disease|Eye disease|Musculoskeletal disease
Reference:
MedGen: 184460
MeSH: 184460
OMIM: 184460 ; Genes: NOG ; Phenotypes Disease Causing ClinVar Variants Variation_Name GeneID GeneSymbol ClinicalSignificance dbSNP RCVaccession TestedInGTR PhenotypeIDs Chromosome Start Stop HGVS_c HGVS_p HGVS_g OtherIDs Disease_ClinVar Disease_hgmd NM_005450.4(NOG):c.103C>T (p.Pro35Ser) 9241 NOG Pathogenic 28937580 RCV000007093 ; RCV000007094 ; RCV000007095 ; N MedGen:C1861385,OMIM:185800,ORPHA:3250; MedGen:C1866656,OMIM:184460,ORPHA:140917; MedGen:C1969652,OMIM:611377,ORPHA:140908 17 54671687 54671687 NM_005450.4:c.103C>T NP_005441.1:p.Pro35Ser NC_000017.10:g.54671687C>G,NC_000017.10:g.54671687C>T OMIM Allelic Variant:602991.0012 C1969652 611377 Brachydactyly type B2; C1861385 185800 Cushing's symphalangism; C1866656 184460 Stapes ankylosis with broad thumb and toes NM_005450.4(NOG):c.328C>T (p.Gln110Ter) 9241 NOG Pathogenic 104894614 RCV000007096 ; N MedGen:C1866656,OMIM:184460,ORPHA:140917 17 54671912 54671912 NM_005450.4:c.328C>T NP_005441.1:p.Gln110Ter NC_000017.10:g.54671912C>T OMIM Allelic Variant:602991.0013 C1866656 184460 Stapes ankylosis with broad thumb and toes