Preferred Name |
holoprosencephaly 3 |
Synonyms |
HLP3 |
Definitions |
A holoprosencephaly that has_material_basis_in heterozygous mutation in the SHH gene on chromosome 7q36. |
ID |
http://purl.obolibrary.org/obo/DOID_0110875 |
database_cross_reference |
MESH:C564181 OMIM:142945 |
definition |
A holoprosencephaly that has_material_basis_in heterozygous mutation in the SHH gene on chromosome 7q36. |
has exact synonym |
HLP3 HPE3 |
has material basis in | |
has_obo_namespace |
disease_ontology |
id |
DOID:0110875 |
label |
holoprosencephaly 3 |
notation |
DOID:0110875 |
prefLabel |
holoprosencephaly 3 |
subClassOf |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.bioontology.org/ontology/MESH/C564181 | Medical Subject Headings | LOOM | |
http://purl.bioontology.org/ontology/OMIM/142945 | Online Mendelian Inheritance in Man | LOOM |