Disease Browser
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Parent Node: Intellectual Disability (D008607) | Parent Node: Micrognathism (D008844) | ..Starting node ..Cerebral Cavernous Malformations 3 (C566393)
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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: | 1941 |
Name: | Cerebral Cavernous Malformations 3 |
Definition: | |
Alternative IDs: | OMIM:603285 |
ParentIDs: | MESH:D008607|MESH:D008844 |
TreeNumbers: | C05.500.460.457/C566393 |C05.660.207.540.460.457/C566393 |C07.320.440.457/C566393 |C07.650.500.460.457/C566393 |C10.597.606.643/C566393 |C16.131.621.207.540.460.457/C566393 |C16.131.850.500.460.457/C566393 |C23.888.592.604.646/C566393 |F03.550.600/C566393 |
Synonyms: | CCM3 |
Slim Mappings: | Congenital abnormality|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms |
Reference: |
MedGen: C566393
MeSH: C566393
OMIM: 603285;
Genes: PDCD10; | Phenotypes | | Disease Causing ClinVar Variants | |
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