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loading...| Preferred Name |
Seckel syndrome 1 |
| Synonyms |
microcephalic primordial dwarfism I |
| Definitions |
A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATR gene on chromosome 3q23. |
| ID |
http://purl.obolibrary.org/obo/DOID_0070007 |
| database_cross_reference |
OMIM:210600 MESH:C537533 |
| definition |
A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATR gene on chromosome 3q23. |
| has exact synonym |
microcephalic primordial dwarfism I SCKL1 |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0070007 |
| label |
Seckel syndrome 1 |
| notation |
DOID:0070007 |
| prefLabel |
Seckel syndrome 1 |
| subClassOf |
Create New Mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/OMIM/210600 | Online Mendelian Inheritance in Man | LOOM | |
| http://purl.bioontology.org/ontology/MESH/C537533 | Medical Subject Headings | LOOM |