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loading...| Preferred Name |
rhizomelic chondrodysplasia punctata type 1 |
| Synonyms |
Pbd9 |
| Definitions |
A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23.3. |
| ID |
http://purl.obolibrary.org/obo/DOID_0110851 |
| database_cross_reference |
OMIM:215100 GARD:6049 ORDO:309789 ICD10CM:Q77.3 |
| definition |
A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23.3. |
| has exact synonym |
Pbd9 Rcdp1 Peroxisome Biogenesis Disorder 9 |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0110851 |
| in_subset | |
| label |
rhizomelic chondrodysplasia punctata type 1 |
| notation |
DOID:0110851 |
| prefLabel |
rhizomelic chondrodysplasia punctata type 1 |
| subClassOf |
Create New Mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/OMIM/215100 | Online Mendelian Inheritance in Man | LOOM | |
| http://purl.bioontology.org/ontology/MESH/C531651 | Medical Subject Headings | LOOM |