Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Disease ID: disease_node_19682
Connections displayed (default: 10).
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| Dbxref | GARD:4528, MIM:300004, ORDO:2508 |
|---|---|
| Subclassof | DOID_225, DOID_0050735 |
| Data Source | DOID |
| Synonyms | ACC with abnormal genitalia, Proud syndrome, Proud-Levine-Carpenter syndrome, corpus callosum agenesis with abnormal genitalia, microcephaly-corpus callosum agenesis-abnormal genitalia syndrome |
| Doid Label | corpus callosum agenesis-abnormal genitalia syndrome |
| Doid Description | A syndrome characterized by agenesis of the corpus callosum, severe intellectual disability, seizures, and spasticity with males showing a severe phenotype and females showing a mild or non-affected phenotype that has_material_basis_in mutation in ARX on chromosome Xp21.3. |
| Has Phenotype | HP_0001257 |
| Has Material Basis In | GENO_0000936 |
| Disease Node Id | disease_node_19682 |
| Doid Id | DOID_0112151 |
| Label | Corpus Callosum Agenesis-Abnormal Genitalia Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Monogenic Disease(ID:disease_node_13360) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)