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:
expandAbnormalities, Multiple (D000015)
Parent Node:
expandAnus, Imperforate (D001006)
Parent Node:
expandHand Deformities, Congenital (D006228)
Parent Node:
expandHearing Loss, Bilateral (D006312)
Parent Node:
expandOphthalmoplegia (D009886)
Parent Node:
expandThrombocytopenia (D013921)
..Starting node
..expandOculootoradial syndrome (C535544)

       Child Nodes:



 Sister Nodes: 
..expandAbsent radii and thrombocytopenia (C536940)
..expandAcquired pure megakaryocytic aplasia (C538176)
..expandCongenital amegakaryocytic thrombocytopenia (C535982)
..expandCongenital disorder of glycosylation type 1X (C535751)
..expandDK Phocomelia Syndrome (C565618)
..expandDyserythropoietic Anemia with Thrombocytopenia (C564525)
..expandEvan's syndrome (C536380)
..expandFORSYTHE-WAKELING SYNDROME (OMIM:613606)
..expandGardner Morrisson Abbot syndrome (C535643)
..expandGiant Platelet Syndrome with Thrombocytopenia (C564237)
..expandGlycoprotein IA Deficiency (C566000)
..expandJacobsen Distal 11q Deletion Syndrome (D054868) Child1
..expandKasabach-Merritt Syndrome (D059885) Child1
..expandMacrothrombocytopenia progressive deafness (C537831)
..expandMacrothrombocytopenia, Autosomal Dominant, Tubb1-Related (C567747)
..expandMacrothrombocytopenia, X-Linked (C564526)
..expandMYH9-Related Disorders (C535507)
..expandOculootoradial syndrome (C535544)
..expandOsteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension (C563478)
..expandRadioulnar Synostosis with Amegakaryocytic Thrombocytopenia (C565328)
..expandSpastic Paraplegia And Evans Syndrome (C566652)
..expandTetraphocomelia-Thrombocytopenia Syndrome (C564771)
..expandThrombasthenia-Thrombocytopenia, Hereditary (C566060)
..expandThrombocytopenia 1 (C564052)
..expandTHROMBOCYTOPENIA 2 (OMIM:188000)
..expandThrombocytopenia 3 (C567487)
..expandThrombocytopenia 4 (C567438)
..expandThrombocytopenia absent ulnar syndrome (C536944)
..expandThrombocytopenia chromosome breakage (C536519)
..expandThrombocytopenia Robin sequence (C536898)
..expandThrombocytopenia with Elevated Serum Iga and Renal Disease (C564051)
..expandThrombocytopenia, cyclic (C536899)
..expandThrombocytopenia, Neonatal Alloimmune (D054098)
..expandThrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis (C564050)
..expandThrombocytopenia, X-Linked, Intermittent (C564053)
..expandTHROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA (OMIM:300367)
..expandThrombotic Microangiopathies (D057049) Child9
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:8192
Name:Oculootoradial syndrome
Definition:
Alternative IDs:OMIM:147750
ParentIDs:MESH:D000015|MESH:D001006|MESH:D006228|MESH:D006312|MESH:D009886|MESH:D013921
TreeNumbers:C05.390.408/C535544 |C05.660.585.988.425/C535544 |C06.198.050/C535544 |C09.218.458.341.374/C535544 |C10.292.562.750/C535544 |C10.597.622.447/C535544 |C10.597.751.418.341.374/C535544 |C11.590.472/C535544 |C15.378.140.855/C535544 |C16.131.077/C535544 |C16.131.314.09
Synonyms:Instituto Venezolano de Investigaciones Cientificas syndrome |IVIC SYNDROME |OCULOOTORADIAL SYNDROME |OORS |Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia
Slim Mappings:Blood disease|Congenital abnormality|Digestive system disease|Ear-nose-throat disease|Eye disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C535544
MeSH: C535544
OMIM: 147750;

Genes: SALL4;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0009777Absent thumb
3 HP:0002023Anal atresia
4 HP:0001498Carpal bone hypoplasia
5 HP:0009702Carpal synostosis
6 HP:0000544External ophthalmoplegia
7 HP:0000365Hearing impairment
8 HP:0030241Hypoplasia of deltoid muscle
9 HP:0002984Hypoplasia of the radius
10 HP:0002566Intestinal malrotation
11 HP:0001974Leukocytosis
12 HP:0002996Limited elbow movement
13 HP:0006064Limited interphalangeal movement
14 HP:0006248Limited wrist movement
15 HP:0008953Pectoralis major hypoplasia
16 HP:0003812Phenotypic variability
17 HP:0002974Radioulnar synostosis
18 HP:0000143Rectovaginal fistula
19 HP:0002650Scoliosis
20 HP:0010034Short 1st metacarpal
21 HP:0001245Small thenar eminence
22 HP:0000486Strabismus
23 HP:0001873Thrombocytopenia
24 HP:0001199Triphalangeal thumb
Disease Causing ClinVar Variants