Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
Jump to:
| Id | http://purl.bioontology.org/ontology/OMIM/259100
http://purl.bioontology.org/ontology/OMIM/259100
|
|---|---|
| Preferred Name | HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 |
| Synonyms |
PDP, AUTOSOMAL RECESSIVE
CURRARINO IDIOPATHIC OSTEOARTHROPATHY
CIO
PACHYDERMOPERIOSTOSIS, AUTOSOMAL RECESSIVE
FAMILIAL IDIOPATHIC OSTEOARTHROPATHY OF CHILDHOOD
PHOAR1
COA
CRANIOOSTEOARTHROPATHY
TOURAINE-SOLENTE-GOLE SYNDROME
PHO, AUTOSOMAL RECESSIVE
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
PDP, AUTOSOMAL RECESSIVE
CURRARINO IDIOPATHIC OSTEOARTHROPATHY
CIO
PACHYDERMOPERIOSTOSIS, AUTOSOMAL RECESSIVE
FAMILIAL IDIOPATHIC OSTEOARTHROPATHY OF CHILDHOOD
PHOAR1
COA
CRANIOOSTEOARTHROPATHY
TOURAINE-SOLENTE-GOLE SYNDROME
PHO, AUTOSOMAL RECESSIVE
See more
See less
|
|---|---|
| prefLabel | HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1
|
| Gene Symbol |
HPGD
PHOAR1
PGDH1
|
| notation | 259100
|
| Scope Statement | Male to female ratio of 7:1 [MISCELLANEOUS]
Exacerbation at puberty [MISCELLANEOUS]
Onset at birth [MISCELLANEOUS]
Males are more severely affected than females [MISCELLANEOUS]
Caused by mutation in the 15-alpha-hydroxyprostaglandin dehydrogenase gene (HPGD, 601688.0001). [MOLECULAR BASIS]
|
| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
See more
See less
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| Gene Locus | 4q34-q35
|
| tui | T047
|
| cui |
C0029411
C2678439
C4551679
|
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
- Problem retrieving properties:
Notes
Filter:
