| Disease Browser
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Parent Node:
 Agenesis of Corpus Callosum (D061085) | Parent Node:
Coloboma (D003103) | Parent Node:
Intellectual Disability (D008607) | Parent Node:
Micrognathism (D008844) | ..Starting node
.. Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia (C564509)
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Child Nodes:
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Sister Nodes: | ..Baetz-Greenwalt syndrome (C537795)
| ..Bird headed dwarfism Montreal type (C535448)
| ..Cerebral Cavernous Malformations 2 (C566394)
| ..Cerebral Cavernous Malformations 3 (C566393)
| ..Cerebrocostomandibular Syndrome (C562538)
| ..Clavicular Hypoplasia, Zygomatic Arch Hypoplasia, and Micrognathia (C565729)
| ..Coffin-Siris syndrome (C536436)
| ..Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia (C564509)
| ..Crumpled helices and small mouth (C536217)
| ..Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia (C563344)
| ..Genee-Wiedemann syndrome (C537680)
| ..Genito palato cardiac syndrome (C537683)
| ..Ho Kaufman Mcalister syndrome (C538325)
| ..Limb Deficiencies, Distal, with Micrognathia (C565437)
| ..Meier-Gorlin syndrome (C538012)
| ..Milner Khallouf Gibson syndrome (C537473)
| ..Multiple Epiphyseal Dysplasia with Robin Phenotype (C563291)
| ..Schweitzer Kemink Graham syndrome (C536511)
| ..Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet (C564759)
| ..Yunis Varon syndrome (C536719)
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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| Term ID: | 2774 |
| Name: | Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia |
| Definition: | |
| Alternative IDs: | OMIM:300472 |
| ParentIDs: | MESH:D003103|MESH:D008607|MESH:D008844|MESH:D061085 |
| TreeNumbers: | C05.500.460.457/C564509 |C05.660.207.540.460.457/C564509 |C07.320.440.457/C564509 |C07.650.500.460.457/C564509 |C10.500.034/C564509 |C10.597.606.643/C564509 |C11.250.110/C564509 |C16.131.384.282/C564509 |C16.131.621.207.540.460.457/C564509 |C16.131.666.034/C56450 |
| Synonyms: | MENTAL RETARDATION, X-LINKED, SYNDROMIC 28 |MRXS28 |
| Slim Mappings: | Congenital abnormality|Eye disease|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms |
| Reference: |
MedGen: C564509
MeSH: C564509
OMIM: 300472;
Genes: IGBP1; | | Phenotypes | | | Disease Causing ClinVar Variants | |
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