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Human Health Exposure Analysis Resource
Last uploaded:
July 19, 2024
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| Id | http://purl.obolibrary.org/obo/DOID_2736
http://purl.obolibrary.org/obo/DOID_2736
|
|---|---|
| Preferred Name | Hajdu-Cheney syndrome |
| Definitions |
A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has_material_basis_in heterozygous mutation in the NOTCH2 gene on chromosome 1p12.
OMIM mapping confirmed by DO. [SN].
|
| Synonyms |
arthrodentoosteodysplasia
SFPKS
acroosteolysis with osteoporosis and changes in skull and mandible
Cheney syndrome
HJCYS
serpentine fibula-polycystic kidney syndrome
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has_material_basis_in heterozygous mutation in the NOTCH2 gene on chromosome 1p12. OMIM mapping confirmed by DO. [SN]. |
|---|---|
| alternative label |
arthrodentoosteodysplasia
SFPKS
acroosteolysis with osteoporosis and changes in skull and mandible
Cheney syndrome
HJCYS
serpentine fibula-polycystic kidney syndrome
See more
See less
|
| preferred label |
Hajdu-Cheney syndrome
|
| label |
Hajdu-Cheney syndrome
|
| comment |
OMIM mapping confirmed by DO. [SN].
|
| prefLabel |
Hajdu-Cheney syndrome
|
| database_cross_reference |
SNOMEDCT_US_2023_03_01:63122002
MESH:D030981
UMLS_CUI:C0917715
MESH:D031845
UMLS_CUI:C0917990
GARD:508
MIM:102500
NCI:C35545
NCI:C84745
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|
| notation |
DOID:2736
|
| in_subset | |
| id |
DOID:2736
|
| note |
A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has_material_basis_in heterozygous mutation in the NOTCH2 gene on chromosome 1p12.
OMIM mapping confirmed by DO. [SN].
|
| has material basis in | |
| has_obo_namespace |
disease_ontology
|
| subClassOf | |
| has_alternative_id |
DOID:2735
|
| type | |
| has exact synonym |
arthrodentoosteodysplasia
SFPKS
acroosteolysis with osteoporosis and changes in skull and mandible
Cheney syndrome
HJCYS
serpentine fibula-polycystic kidney syndrome
See more
See less
|
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