|
| General Information | |||
|---|---|---|---|
| Term | Robinow syndrome | ID (Ontology) | DOID:0060254 (Human Disease) |
| Definition | A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities. | ||
| Also Known As | "acral dysostosis with facial and genital abnormalities" ; "fetal face syndrome" ; "Robinow dwarfism" | ||
| Comment | |||
| Links to External Ontologies | |||
| DO.org | |||
| Annotations | |||
| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
|||
|
No relevant statements available
|
|||
|
||||||
monogenic disease |__autosomal genetic disease__ disease | |__syndrome___________________| Robinow syndrome 8 rec. |__autosomal dominant Robinow syndrome 1 1 rec. |__autosomal dominant Robinow syndrome 2 6 rec. |__autosomal dominant Robinow syndrome 3 1 rec. |__autosomal recessive Robinow syndrome 1 rec. |__autosomal recessive Robinow syndrome 2 |
| Spanning Tree View Settings | |||
|---|---|---|---|
| Parents/Children View Depth |
|||
Relationships
|
|||
| Is a |
autosomal genetic disease syndrome |
||
| Part of | |||
|
Synonyms & Secondary IDs
|
|||
| Synonyms | |||
|
|||
| Secondary IDs | |||
|
|
|||
|
External Crossreferences & Linkouts
|
|||
|
GARD:312 ICD10CM:Q87.19 MESH:C562492 MIM:PS268310 NCI:C85048 ORDO:97360 SNOMEDCT_US_2023_03_01:76520005 UMLS_CUI:C0265205 |
|||