Renpenning Syndrome
Disease ID: disease_node_19229
Connections displayed (default: 10).
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| Dbxref | ICD10CM:Q87.5, MIM:309500, ORDO:3242 |
|---|---|
| Subclassof | DOID_0080012, DOID_0060309 |
| Data Source | DOID |
| Synonyms | Golabi-Ito-Hall syndrome, Sutherland-Haan X-linked mental retardation syndrome, X-linked intellectual disability due to PQBP1 mutations, X-linked intellectual disability, Renpenning type, X-linked mental retardation Renpenning type, X-linked mental retardation with spastic diplegia, syndromic X-linked mental retardation 8 |
| Doid Label | Renpenning syndrome |
| Doid Description | An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males. |
| Has Symptom | SYMP_0000568 |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_19229 |
| Doid Id | DOID_0060179 |
| Label | Renpenning Syndrome |
- Outgoing r'ship
HAS_SYMPTOMto/from Short Stature(ID:disease_node_21459) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndromic X-Linked Intellectual Disability(ID:disease_node_13590) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease)