Preferred Name

Kenny-Caffey Syndrome

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C130991

ALT_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.

code

C130991

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118467

Contributing_Source

NICHD

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.

FULL_SYN

Kenny-Caffey Syndrome

label

Kenny-Caffey Syndrome

Preferred_Name

Kenny-Caffey Syndrome

prefixIRI

Thesaurus:C130991

prefLabel

Kenny-Caffey Syndrome

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0265291

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0080724 Human Disease Ontology / 人类疾病本体 LOOM
http://www.orpha.net/ORDO/Orphanet_2333 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0016516 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0016516 Experimental Factor Ontology / 实验性因素本体 LOOM