3P Deletion Syndrome
Disease ID: disease_node_17103
Connections displayed (default: 10).
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| Dbxref | ICD10CM:Q93.5, MIM:613792, ORDO:1620 |
|---|---|
| Subclassof | DOID_0050736, DOID_0060388 |
| Data Source | DOID |
| Synonyms | chromosome 3pter-P25 deletion syndrome, distal monosomy 3p |
| Doid Label | 3p deletion syndrome |
| Doid Description | A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion syndrome involving chromosome 3pter-p25 and is characterized by low birth weight, microcephaly, trigonocephaly, hypotonia, psychomotor and growth retardation, ptosis, telecanthus, downslanting palpebral fissures, and micrognathia. |
| Has Symptom | SYMP_0000369 |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_17103 |
| Doid Id | DOID_0060417 |
| Label | 3P Deletion Syndrome |
- Outgoing r'ship
HAS_SYMPTOMto/from Blepharoptosis(ID:disease_node_1612) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Chromosomal Deletion Syndrome(ID:disease_node_15239) (Disease)