Preferred Name |
OSSEOUS HETEROPLASIA, PROGRESSIVE |
Synonyms |
OSTEOMA CUTIS |
ID |
http://purl.bioontology.org/ontology/OMIM/166350 |
altLabel |
OSTEOMA CUTIS POH ECTOPIC OSSIFICATION, FAMILIAL |
cui |
C0334041 |
Gene Locus |
20q13.2 |
Gene Symbol |
AHO PITA3 GNAS1 PHP1B PHP1C GNAS POH GPSA PHP1A |
Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU023988 http://purl.bioontology.org/ontology/OMIM/MTHU023986 http://purl.bioontology.org/ontology/OMIM/MTHU023984 http://purl.bioontology.org/ontology/OMIM/MTHU023991 http://purl.bioontology.org/ontology/OMIM/MTHU023985 http://purl.bioontology.org/ontology/OMIM/MTHU023989 http://purl.bioontology.org/ontology/OMIM/MTHU027337 http://purl.bioontology.org/ontology/OMIM/MTHU000011 http://purl.bioontology.org/ontology/OMIM/MTHU023987 |
MIMTYPEMEANING |
Phenotype description, molecular basis known. |
notation |
166350 |
OMIM Entry Type |
3 |
OMIM MimType Value |
pound |
prefLabel |
OSSEOUS HETEROPLASIA, PROGRESSIVE |
tui |
T047 |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.bioontology.org/ontology/MESH/C562735 | Medical Subject Headings | CUI | |
http://purl.bioontology.org/ontology/MESH/C562735 | Medical Subject Headings | LOOM |