loading...| Preferred Name |
Laron Syndrome |
|
| Synonyms |
Growth Hormone Insensitivity Syndrome Pituitary Dwarfism IIs Pituitary Dwarfism II Laron Type Dwarfism I Severe GH Insensitivity Dwarfism, Laron Growth Hormone Receptor Defect Syndrome, Laron GH Resistance, Primary Growth Hormone Receptor Deficiency Primary GH Resistance Dwarfism II, Pituitary Dwarfism IIs, Pituitary Laron Dwarfism Primary Growth Hormone Resistance |
|
| Definitions |
An autosomal recessive disorder characterized by short stature, defective GROWTH HORMONE RECEPTOR, and failure to generate INSULIN-LIKE GROWTH FACTOR I by GROWTH HORMONE. Laron syndrome is not a form of primary pituitary dwarfism (GROWTH HORMONE DEFICIENCY DWARFISM) but the result of mutation of the human GHR gene on chromosome 5. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D046150 |
|
| altLabel |
Growth Hormone Insensitivity Syndrome Pituitary Dwarfism IIs Pituitary Dwarfism II Laron Type Dwarfism I Severe GH Insensitivity Dwarfism, Laron Growth Hormone Receptor Defect Syndrome, Laron GH Resistance, Primary Growth Hormone Receptor Deficiency Primary GH Resistance Dwarfism II, Pituitary Dwarfism IIs, Pituitary Laron Dwarfism Primary Growth Hormone Resistance |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0271568 |
|
| DC |
1 |
|
| definition |
An autosomal recessive disorder characterized by short stature, defective GROWTH HORMONE RECEPTOR, and failure to generate INSULIN-LIKE GROWTH FACTOR I by GROWTH HORMONE. Laron syndrome is not a form of primary pituitary dwarfism (GROWTH HORMONE DEFICIENCY DWARFISM) but the result of mutation of the human GHR gene on chromosome 5. |
|
| DX |
20050101 |
|
| HN |
2005 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Machine permutation |
2005 |
|
| Mapped from | ||
| MDA |
20040707 |
|
| MMR |
20120703 |
|
| MN |
C16.320.240.750 C05.116.099.343.679 C19.297.656 |
|
| notation |
D046150 |
|
| prefLabel |
Laron Syndrome |
|
| TERMUI |
T548481 T548482 T570690 T548484 T824581 T548480 T812271 T570689 T548483 T548479 |
|
| TH |
OMIM (2013) NLM (2005) |
|
| tui |
T047 |
|
| subClassOf |