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:
expandBlepharophimosis (D016569)
Parent Node:
expandEye Diseases, Hereditary (D015785)
Parent Node:
expandFoot Deformities, Congenital (D005532)
Parent Node:
expandHand Deformities, Congenital (D006228)
Parent Node:
expandHearing Loss, Sensorineural (D006319)
Parent Node:
expandHypertelorism (D006972)
..Starting node
..expandAcrootoocular Syndrome (C564866)

       Child Nodes:



 Sister 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)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:208
Name:Acrootoocular Syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D005532|MESH:D006228|MESH:D006319|MESH:D006972|MESH:D015785|MESH:D016569
TreeNumbers:C05.116.099.370.231.480/C564866 |C05.330.495/C564866 |C05.390.408/C564866 |C05.660.207.231.480/C564866 |C05.660.585.512.380/C564866 |C05.660.585.988.425/C564866 |C09.218.458.341.887/C564866 |C10.597.751.418.341.887/C564866 |C11.250.090/C564866 |C11.270/C564866 |C1
Synonyms:Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies
Slim Mappings:Congenital abnormality|Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C564866
MeSH: C564866
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants