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 |
ICD9:759.89 NCIT:C130991 OMIMPS:127000 SCTID:82837002 Orphanet:2333 UMLS:C0265291 DOID:0080724 MESH:C537020 MEDGEN:75560 GARD:16594 NORD:1325 |
|
| 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-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#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_malformation_syndrome http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
Kenny-Caffey syndrome |
|
| notation |
MONDO:0016516 |
|
| preferred label |
Kenny-Caffey syndrome |
|
| prefLabel |
Kenny-Caffey syndrome |
|
| 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 |
|
| subClassOf |