Disease Browser
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Parent Node: Blepharophimosis (D016569) | Parent Node: Eye Diseases, Hereditary (D015785) | Parent Node: Foot Deformities, Congenital (D005532) | Parent Node: Hand Deformities, Congenital (D006228) | Parent Node: Hearing Loss, Sensorineural (D006319) | Parent Node: Hypertelorism (D006972) | ..Starting node ..Acrootoocular Syndrome (C564866)
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Sister Nodes: | ..Acrootoocular Syndrome (C564866)
| ..Atrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects (C566351)
| ..Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
| ..Bagatelle Cassidy syndrome (C537796)
| ..Barber Say syndrome (C537908)
| ..Brachycephalofrontonasal dysplasia (C537085)
| ..Camptodactyly Syndrome, Guadalajara, Type II (C567138)
| ..Camptodactyly Syndrome, Guadalajara, Type III (C567455)
| ..Chromosome 6pter-P24 Deletion Syndrome (C567239)
| ..De Hauwere Leroy Adriaenssens syndrome (C535991)
| ..Facial Abnormalities, Kyphoscoliosis, and Mental Retardation (C565580)
| ..FRONTONASAL DYSPLASIA 1 (OMIM:136760)
| ..FRONTONASAL DYSPLASIA 2 (OMIM:613451)
| ..FRONTONASAL DYSPLASIA 3 (OMIM:613456)
| ..Gastrocutaneous syndrome (C535651)
| ..Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness (C565518)
| ..HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
| ..Hypertelorism and tetralogy of Fallot (C538386)
| ..Hypertelorism with esophageal abnormality and hypospadias (C538387)
| ..HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS (OMIM:614187)
| ..Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility (C566988)
| ..Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss (C566373)
| ..Krauss Herman Holmes syndrome (C537618)
| ..Marles Greenberg Persaud syndrome (C536022)
| ..Naguib-Richieri-Costa syndrome (C538332)
| ..Opitz GBBB Syndrome, X-Linked (C567932)
| ..Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia (C564881)
| ..Roberts Syndrome (C535687)
| ..Santos Mateus Leal syndrome (C537235)
| ..Schwartz-Lelek syndrome (C537519)
| ..Seaver Cassidy syndrome (C537529)
| ..Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations (C567475)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
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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 | |
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