loading...| Preferred Name |
primary hypertrophic osteoarthropathy |
|
| Synonyms |
hypertrophic osteoarthropathy, primary, autosomal recessive, 1 PHOAR1 hypertrophic osteoarthropathy, primary, autosomal recessive, type 1 hypertropic osteoarthropathy, primary hypertrophic osteoarthropathy, primary pachydermoperiostosis of nail [ambiguous] pachydermoperiostosis syndrome Touraine-Solente-Gole syndrome Touraine Solente Gole syndrome pachydermoperiostosis idiopathic hypertrophic osteoarthropathy pachydermoperiostosis of nail PDP PHO |
|
| Definitions |
A genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0016620 |
|
| closeMatch | ||
| database_cross_reference |
NCIT:C85023 SCTID:88220006 OMIMPS:259100 MedDRA:10051686 Orphanet:248095 Orphanet:2796 NANDO:2100288 NANDO:2201004 NANDO:1200642 UMLS:C0029411 MESH:D010004 DOID:14283 GARD:20667 |
|
| definition |
A genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy. |
|
| exactMatch |
http://identifiers.org/snomedct/88220006 http://purl.obolibrary.org/obo/NCIT_C85023 http://linkedlifedata.com/resource/umls/id/C0029411 http://purl.obolibrary.org/obo/Orphanet_248095 http://purl.obolibrary.org/obo/Orphanet_2796 http://identifiers.org/mesh/D010004 |
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| has_exact_synonym |
hypertrophic osteoarthropathy, primary, autosomal recessive, type 1 hypertropic osteoarthropathy, primary hypertrophic osteoarthropathy, primary pachydermoperiostosis of nail [ambiguous] pachydermoperiostosis syndrome Touraine-Solente-Gole syndrome Touraine Solente Gole syndrome pachydermoperiostosis idiopathic hypertrophic osteoarthropathy pachydermoperiostosis of nail PDP PHO |
|
| has_related_synonym |
hypertrophic osteoarthropathy, primary, autosomal recessive, 1 PHOAR1 |
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| IAO_0000233 | ||
| id |
MONDO:0016620 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_malformation_syndrome http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disease |
|
| label |
primary hypertrophic osteoarthropathy |
|
| notation |
MONDO:0016620 |
|
| preferred label |
primary hypertrophic osteoarthropathy |
|
| prefLabel |
primary hypertrophic osteoarthropathy |
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| subClassOf | ||
| excluded_subClassOf |