Disease Browser
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Parent Node: Chromosome Deletion (D002872) | Parent Node: Eye Abnormalities (D005124) | Parent Node: Hearing Loss (D034381) | Parent Node: Heart Defects, Congenital (D006330) | Parent Node: Hypertelorism (D006972) | ..Starting node ..Chromosome 6pter-P24 Deletion Syndrome (C567239)
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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: | 2325 |
Name: | Chromosome 6pter-P24 Deletion Syndrome |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D002872|MESH:D005124|MESH:D006330|MESH:D006972|MESH:D034381 |
TreeNumbers: | C05.116.099.370.231.480/C567239 |C05.660.207.231.480/C567239 |C09.218.458.341/C567239 |C10.597.751.418.341/C567239 |C11.250/C567239 |C14.240.400/C567239 |C14.280.400/C567239 |C16.131.240.400/C567239 |C16.131.384/C567239 |C16.131.621.207.231.480/C567239 |C23.550.21 |
Synonyms: | |
Slim Mappings: | Cardiovascular disease|Congenital abnormality|Ear-nose-throat disease|Eye disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms |
Reference: |
MedGen: C567239
MeSH: C567239
OMIM: 612582;
Genes: AF8T; | Phenotypes | | Disease Causing ClinVar Variants | |
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