Medical Subject Headings

Last uploaded: April 29, 2019
Preferred Name

Kenny Caffey syndrome

Synonyms

Kenny syndrome

ID

http://purl.bioontology.org/ontology/MESH/C537020

altLabel

Kenny syndrome

Kenny-Caffey syndrome, type 2

Dwarfism, cortical thickening of tubular bones, and transient hypocalcemia

cui

C4316787

C0265291

HM

D006958

D004392

D006996

Inverse of RB

0

Mapped to

http://purl.bioontology.org/ontology/MESH/D006958

http://purl.bioontology.org/ontology/MESH/D004392

http://purl.bioontology.org/ontology/MESH/D006996

MDA

20100825

MeSH Frequency

6

MMR

20171016

notation

C537020

prefLabel

Kenny Caffey syndrome

SC

3

Scope Statement

hereditary disorder caused by mutations in the FAM111A gene and characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities, and transient hypocalcemia. OMIM: 127000

TERMUI

T741212

T741211

T741215

T741214

TH

ORD (2010)

OMIM (2013)

tui

T047

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http://phenomebrowser.net/ontologies/mesh/mesh.owl#C537020 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10073228 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10073228 MEDDRA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C130991 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C130991 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C130991 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C130991 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C130991 NCIT LOOM
http://purl.bioontology.org/ontology/OMIM/127000 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/127000 OMIM CUI
http://www.orpha.net/ORDO/Orphanet_2333 ORDO LOOM
http://www.orpha.net/ORDO/Orphanet_2333 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_2333 ORDO LOOM
http://www.orpha.net/ORDO/Orphanet_2333 CCONT LOOM
http://www.orpha.net/ORDO/Orphanet_2333 HORD LOOM
http://www.orpha.net/ORDO/Orphanet_2333 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_2333 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_2333 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_2333 EFO LOOM
http://purl.bioontology.org/ontology/CSP/2715-1516 CRISP CUI
http://purl.obolibrary.org/obo/MONDO_0016516 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0016516 MONDO LOOM
http://purl.bioontology.org/ontology/CSP/0531-8482 CRISP CUI
http://purl.bioontology.org/ontology/RCD/X40KP RCD CUI
http://purl.bioontology.org/ontology/RCD/X40KP RCD LOOM
http://www.limics.org/hrdo/rdfns#pat_id_2185 HRDO LOOM
http://purl.bioontology.org/ontology/CSP/0944-7801 CRISP CUI
http://purl.bioontology.org/ontology/SNMI/D4-00A51 SNMI CUI
http://purl.bioontology.org/ontology/SNOMEDCT/82837002 SNOMEDCT CUI
http://purl.bioontology.org/ontology/OMIM/615292 OMIM CUI