Disease Browser
Parent Node: Arthrogryposis (D001176) Parent Node: Cleft Palate (D002972) Parent Node: Clubfoot (D003025) Parent Node: Hand Deformities, Congenital (D006228) ..Starting node .. Gordon syndrome (C537288) Child Nodes:
Sister Nodes: ..Aarskog Syndrome (C535331) 1 ..Acheiropodia (C536014) ..Acrofacial dysostosis Rodriguez type (C538183) ..Acrofacial dysostosis, Palagonia type (C538185) ..Acrootoocular Syndrome (C564866) ..Acrorenal Syndrome (C563159) ..Adactylia, Unilateral (C562417) ..Anonychia-Ectrodactyly (C566277) ..Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges (C537766) ..Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal IV (C563942) ..Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy (C565945) ..Banki Syndrome (C566228) ..BRACHYDACTYLY, TYPE E1 (OMIM:113300) ..BRACHYDACTYLY, TYPE E2 (OMIM:613382) ..Camptodactyly 1 (C567780) ..Camptodactyly joint contractures and facial skeletal dysplasia (C537969) ..Camptodactyly syndrome Guadalajara type 1 (C537970) ..Camptodactyly syndrome Guadalajara type 2 (C537971) ..Camptodactyly taurinuria (C537972) ..Camptodactyly vertebral fusion (C537973) ..Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia (C537974) ..Camptodactyly-ichthyosis syndrome (C537976) ..Camptosynpolydactyly, Complex (C564383) ..Carnevale Hernandez Castillo syndrome (C535585) ..Catel Manzke syndrome (C535347) ..CATSHL syndrome (C537975) ..Chitayat Meunier Hodgkinson syndrome (C535926) ..Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly (C563936) ..Coffin-Siris syndrome (C536436) ..Cranioacrofacial Syndrome (C565147) ..Craniosynostosis, Adelaide Type (C563471) ..Crisponi syndrome (C536214) ..Daneman Davy Mancer syndrome (C535986) ..Deafness, congenital onychodystrophy, recessive form (C538204) ..Digitorenocerebral Syndrome (C563052) ..Digitotalar Dysmorphism (C565097) ..Dwarfism stiff joint ocular abnormalities (C535724) ..Dystelephalangy (C538000) ..Ectodermal dysplasia, ectrodactyly, and macular dystrophy (C536190) ..Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate (C565065) ..Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 (C565062) ..Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3 (C565799) ..Ectrodactyly-Cleft Palate Syndrome (C565064) ..Eiken Skeletal Dysplasia (C564010) ..Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly (C566524) ..Fairbank disease (C536393) ..Femur bifid with monodactylous ectrodactyly (C537917) ..Fibromatosis, Gingival, with Hypertrichosis and Mental Retardation (C565331) ..Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome (C565436) ..Frints De Smet Fabry Fryns syndrome (C538062) ..Frontootopalatodigital Osteodysplasia (C567578) ..Fuhrmann syndrome (C538189) ..Goodman camptodactyly (C537287) ..Gordon syndrome (C537288) ..Growth mental deficiency syndrome of Myhre (C537620) ..Growth Retardation, Small and Puffy Hands and Feet, and Eczema (C565528) ..Hairy palms and soles (C535620) ..Hand foot uterus syndrome (C535627) ..Heart-hand syndrome, Slovenian type (C535852) ..Hecht Scott syndrome (C535856) ..Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate (C564484) ..Hydrolethalus syndrome (C536079) ..Jacobs syndrome (C537560) ..Johnson Munson syndrome (C535881) ..Keutel syndrome (C536167) ..Laurin-Sandrow syndrome (C535689) ..Leri pleonosteosis (C537118) ..Macrodactyly of the hand (C537720) ..MAMMARY-DIGITAL-NAIL SYNDROME (OMIM:613689) ..Metacarpal 4 5 Fusion (C564100) ..Metaphyseal acroscyphodysplasia (C537350) ..Michels Caskey syndrome (C537576) ..Microcephaly with Mental Retardation and Digital Anomalies (C567101) ..Mononen Karnes Senac syndrome (C535914) ..Morillo-Cucci Passarge syndrome (C536983) ..Muller Barth Menger syndrome (C537370) ..Neurofaciodigitorenal syndrome (C537388) ..NOG-Related-Symphalangism Spectrum Disorder (C536943) ..Oculootoradial syndrome (C535544) ..Odontotrichoungual-Digital-Palmar Syndrome (C566598) ..Oroacral Syndrome, Verloes-Koulischer Type (C566374) ..Oslam syndrome (C537138) ..Oto-Palato-digital syndrome type 1 (C536065) ..Oto-palato-digital syndrome, type 2 (C538089) ..Otopalatodigital Spectrum Disorder (C567577) ..Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies (C565782) ..Pfeiffer Tietze Welte syndrome (C537891) ..Polydactyly, Postaxial, with Dental and Vertebral Anomalies (C564880) ..Progeroid Facial Appearance with Hand Anomalies (C566563) ..Pseudotrisomy 13 syndrome (C535829) ..Pterygium colli mental retardation digital anomalies (C535831) ..Radio-ulnar synostosis type 1 (C536268) ..Radio-ulnar synostosis type 2 (C536269) ..Rhizomelic dysplasia Patterson Lowry type (C537609) ..Richieri Costa Guion-Almeida syndrome (C535676) ..Richieri Costa Pereira syndrome (C535677) ..Rozin Hertz Goodman syndrome (C535876) ..Saal Bulas syndrome (C537193) ..Sanderson Fraser syndrome (C537232) ..Say Field Coldwell syndrome (C536619) ..Schinzel-Giedion syndrome (C536632) ..Second Metatarsal-Metacarpal Syndrome (C564824) ..Split hand split foot nystagmus (C537319) ..Split-Hand/Foot Malformation With Sensorineural Hearing Loss (C565647) ..Spondylocamptodactyly (C535779) ..Stoll Alembik Dott syndrome (C537497) ..Symphalangism with Multiple Anomalies of Hands and Feet (C566098) ..Symphalangism, C. S. Lewis Type (C566100) ..Symphalangism, Distal (C566099) 1 ..Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly (C566090) ..Synpolydactyly 2 (C564278) ..Tabatznik syndrome (C536784) ..Teebi Kaurah syndrome (C536948) ..Teebi syndrome (C536951) ..Tel Hashomer camptodactyly syndrome (C536953) ..Tendons, Extensor, of Fingers, Anomalous Insertion of (C566068) ..TERMINAL OSSEOUS DYSPLASIA (OMIM:300244) ..Tollner Horst Manzke syndrome (C536964) ..Trichorhinophalangeal Syndrome, Type III (C566033) ..Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet (C564759) ..Triphalangeal Thumb (C573898) ..Triphalangeal thumb non opposable (C536562) ..Triphalangeal Thumb with Double Phalanges (C566028) ..Tukel syndrome (C536925) ..Van Maldergem Wetzburger Verloes syndrome (C536530) ..Ventricular extrasystoles perodactyly Robin sequence (C536537) ..Vohwinkel syndrome (C536457) ..Walbaum Titran Durieux Crepin syndrome (C536566) ..Weaver syndrome (C536687) ..Weaver-Like Syndrome (C562443) ..Weyers ulnar ray/oligodactyly syndrome (C536696) ..Zimmerman Laband syndrome (C536725) Human Disease MESH is developed by UMLS . Further data from MedGen , OMIM , CTD
Term ID: 4770
Name: Gordon syndrome
Definition:
Alternative IDs:
ParentIDs: MESH:D001176|MESH:D002972|MESH:D003025|MESH:D006228
TreeNumbers: C05.330.495.150/C537288 |C05.390.408/C537288 |C05.500.460.185/C537288 |C05.550.150/C537288 |C05.651.102/C537288 |C05.660.077/C537288 |C05.660.207.540.460.185/C537288 |C05.660.585.512.380.500/C537288 |C05.660.585.988.425/C537288 |C07.320.440.185/C537288 |C07.465.52
Synonyms: Arthrogryposis, distal, type 3 |Arthrogryposis multiplex congenita, distal, type 2a |Arthrogryposis Multiplex Congenita, Distal, Type IIa |Camptodactyly, cleft palate, and clubfoot |Distal arthrogryposis, type 3
Slim Mappings: Congenital abnormality|Mouth disease|Musculoskeletal disease
Reference:
MedGen: C537288
MeSH: C537288
OMIM: 114300 ; Genes: PIEZO2 ; 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_022068.3(PIEZO2):c.8238_8245delGACTAGAG (p.Trp2746Terfs) 63895 PIEZO2 Pathogenic 724159993 RCV000125477 ; N MedGen:C0220666,OMIM:114300,ORPHA:376,SNOMED CT:237850008 18 10671538 10671545 NM_022068.3:c.8238_8245delGACTAGAG NP_071351.2:p.Trp2746Terfs NC_000018.9:g.10671538_10671545delCTCTAGTC OMIM Allelic Variant:613629.0005 C0220666 114300 Gordon's syndrome NM_022068.3(PIEZO2):c.8057G>A (p.Arg2686His) 63895 PIEZO2 Pathogenic 587777450 RCV000125478 ; N MedGen:C0220666,OMIM:114300,ORPHA:376,SNOMED CT:237850008 18 10671726 10671726 NM_022068.3:c.8057G>A NP_071351.2:p.Arg2686His 18:g.10671726C>T OMIM Allelic Variant:613629.0003 C0220666 114300 Gordon's syndrome