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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/102500
http://purl.bioontology.org/ontology/OMIM/102500
|
|---|---|
| Preferred Name | HAJDU-CHENEY SYNDROME |
| Synonyms |
ARTHRODENTOOSTEODYSPLASIA
SFPKS
SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME
ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE
CHENEY SYNDROME
HJCYS
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
ARTHRODENTOOSTEODYSPLASIA
SFPKS
SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME
ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE
CHENEY SYNDROME
HJCYS
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|
|---|---|
| prefLabel | HAJDU-CHENEY SYNDROME
|
| Gene Symbol |
NOTCH2
HJCYS
AGS2
|
| Scope Statement | Caused by mutation in the notch receptor 2 gene (NOTCH2, 600275.0003) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 1p12
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 102500
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C0917715
C1838257
|
| Moved from | 600330
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |