|
| General Information | |||
|---|---|---|---|
| Term | Frank-Ter Haar syndrome | ID (Ontology) | DOID:0111789 (Human Disease) |
| Definition | An otopalatodigital syndrome spectrum disorder characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks, and micrognathia) and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the SH3PXD2B gene on chromosome 5q35.1. | ||
| Also Known As | "autosomal recessive Melnick-Needles syndrome" ; "Borrone dermatocardioskeletal syndrome" ; "FTHS" (for all, see Synonyms field below) | ||
| 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
|
|||
|
||||||
autosomal genetic disease |__autosomal recessive disease__________________ bone development disease | |__otopalatodigital syndrome spectrum disorder__| Frank-Ter Haar syndrome |
| Spanning Tree View Settings | |||
|---|---|---|---|
| Parents/Children View Depth |
|||
Relationships
|
|||
| Is a |
autosomal recessive disease otopalatodigital syndrome spectrum disorder |
||
| Part of | |||
|
Synonyms & Secondary IDs
|
|||
| Synonyms | |||
|
|||
| Secondary IDs | |||
|
|
|||
|
External Crossreferences & Linkouts
|
|||
|
GARD:5138 MESH:C537274 MIM:249420 ORDO:137834 SNOMEDCT_US_2023_03_01:720958002 UMLS_CUI:C1855305 |
|||