loading...| Preferred Name | Kenny-Caffey syndrome | |
| Synonyms |
Kenny syndrome |
|
| Definitions |
A genetic condition characterized by long bone sclerosis and thickening, short stature, and head and eye anomalies. Many affected individuals have hypoparathyroidism with hypocalcemia. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0016516 |
|
| database_cross_reference |
UMLS:C0265291 DOID:0080724 MESH:C537020 NCIT:C130991 MEDGEN:75560 SCTID:82837002 NORD:1325 ICD9:759.89 GARD:16594 Orphanet:2333 OMIMPS:127000 |
|
| definition |
A genetic condition characterized by long bone sclerosis and thickening, short stature, and head and eye anomalies. Many affected individuals have hypoparathyroidism with hypocalcemia. |
|
| has_exact_synonym |
Kenny syndrome |
|
| IAO_0000233 | ||
| id |
MONDO:0016516 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_malformation_syndrome |
|
| label |
Kenny-Caffey syndrome |
|
| notation |
MONDO:0016516 |
|
| prefLabel |
Kenny-Caffey syndrome |
|
| should_conform_to |
http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml |
|
| skos_exactMatch |
http://identifiers.org/medgen/75560 https://omim.org/phenotypicSeries/PS127000 http://identifiers.org/mesh/C537020 http://purl.obolibrary.org/obo/NCIT_C130991 http://identifiers.org/snomedct/82837002 http://purl.obolibrary.org/obo/DOID_0080724 |
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| treeView | ||
| subClassOf |