3Mc Syndrome
Disease ID: disease_node_20340
Connections displayed (default: 10).
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| Dbxref | GARD:1118, ICD10CM:Q87.8, MIM:PS257920, ORDO:293843 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID |
| Synonyms | craniofacial-ulnar-renal syndrome, oculopalatoskeletal syndrome |
| Doid Label | 3MC syndrome |
| Doid Description | A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes. Xref MGI. |
| Has Symptom | SYMP_0000369 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20340 |
| Doid Id | DOID_0060225 |
| Label | 3Mc Syndrome |
- Outgoing r'ship
HAS_SYMPTOMto/from Blepharoptosis(ID:disease_node_1612) (Disease) - Incoming r'ship
SUBCLASS_OFto/from 3Mc Syndrome 3(ID:disease_node_20341) (Disease) - Incoming r'ship
SUBCLASS_OFto/from 3Mc Syndrome 1(ID:disease_node_20343) (Disease) - Incoming r'ship
SUBCLASS_OFto/from 3Mc Syndrome 2(ID:disease_node_20342) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)