Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
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Craniofacial Dysostosis (D003394)
..Starting node
..expand
Hypertelorism (D006972)

       Child Nodes:
........expandAcrootoocular Syndrome (C564866)
........expandAtrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects (C566351)
........expandAxenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
........expandBagatelle Cassidy syndrome (C537796)
........expandBarber Say syndrome (C537908)
........expandBrachycephalofrontonasal dysplasia (C537085)
........expandCamptodactyly Syndrome, Guadalajara, Type II (C567138)
........expandCamptodactyly Syndrome, Guadalajara, Type III (C567455)
........expandChromosome 6pter-P24 Deletion Syndrome (C567239)
........expandDe Hauwere Leroy Adriaenssens syndrome (C535991)
........expandFacial Abnormalities, Kyphoscoliosis, and Mental Retardation (C565580)
........expandFRONTONASAL DYSPLASIA 1 (OMIM:136760)
........expandFRONTONASAL DYSPLASIA 2 (OMIM:613451)
........expandFRONTONASAL DYSPLASIA 3 (OMIM:613456)
........expandGastrocutaneous syndrome (C535651)
........expandHirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness (C565518)
........expandHYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
........expandHypertelorism and tetralogy of Fallot (C538386)
........expandHypertelorism with esophageal abnormality and hypospadias (C538387)
........expandHYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS (OMIM:614187)
........expandHypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility (C566988)
........expandHypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss (C566373)
........expandKrauss Herman Holmes syndrome (C537618)
........expandMarles Greenberg Persaud syndrome (C536022)
........expandNaguib-Richieri-Costa syndrome (C538332)
........expandOpitz GBBB Syndrome, X-Linked (C567932)
........expandPolycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia (C564881)
........expandRoberts Syndrome (C535687)
........expandSantos Mateus Leal syndrome (C537235)
........expandSchwartz-Lelek syndrome (C537519)
........expandSeaver Cassidy syndrome (C537529)
........expandToe Syndactyly, Telecanthus, and Anogenital and Renal Malformations (C567475)



 Sister Nodes: 
..expandBazopoulou Kyrkanidou syndrome (C537664)
..expandCote Katsantoni syndrome (C536449)
..expandCraniofacial Dysostosis with Diaphyseal Hyperplasia (C562974)
..expandCraniometaphyseal dysplasia, autosomal recessive type (C536570)
..expandCrouzon Syndrome With Acanthosis Nigricans (C567382)
..expandFreeman-Sheldon syndrome (C535483)
..expandHallermann's Syndrome (D006210) Child1
..expandHypertelorism (D006972) Child32
..expandHypomandibular faciocranial dysostosis (C537154)
..expandKaplan Plauchu Fitch syndrome (C536892)
..expandMandibulofacial Dysostosis (D008342) Child20
..expandMaxillofacial Dysostosis (C563599)
..expandOculomaxillofacial dysostosis (C537736)
..expandTricho-dento-osseous syndrome 1 (C536550)
..expandWhistling face syndrome, recessive form (C536699)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:5481
Name:Hypertelorism
Definition:Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid.
Alternative IDs:
ParentIDs:MESH:D003394
TreeNumbers:C05.116.099.370.231.480 |C05.660.207.231.480 |C16.131.621.207.231.480
Synonyms:Hypertelorisms
Slim Mappings:Congenital abnormality|Musculoskeletal disease
Reference: MedGen: D006972
MeSH: D006972
OMIM: 145400;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000316Hypertelorism
Disease Causing ClinVar Variants