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loading...| Preferred Name |
Kenny-Caffey syndrome, type 2 |
|
| Synonyms |
Dwarfism, cortical thickening of tubular bones, and transient hypocalcemia |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C537020 |
|
| altLabel |
Dwarfism, cortical thickening of tubular bones, and transient hypocalcemia |
|
| cui |
C4316787 |
|
| HM |
D006958 D004392 D006996 |
|
| Inverse of RB |
0 |
|
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D006958 |
|
| MDA |
20100825 |
|
| MeSH Frequency |
10 |
|
| MMR |
20180924 |
|
| notation |
C537020 |
|
| prefLabel |
Kenny-Caffey syndrome, type 2 |
|
| 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 T741214 |
|
| TH |
OMIM (2013) ORD (2010) |
|
| tui |
T047 |
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