loading...| Preferred Name |
LEOPARD Syndrome |
|
| Synonyms |
Cardiomyopathic Lentiginoses, Progressive |
|
| Definitions |
An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abnormalities; ocular HYPERTELORISM; PULMONARY STENOSIS; abnormal genitalia; retardation of growth; and DEAFNESS or SENSORINEURAL HEARING LOSS). This syndrome is caused by mutations of PTPN11 gene encoding the non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11, and is an allelic to NOONAN SYNDROME. Features of LEOPARD syndrome overlap with those of NEUROFIBROMATOSIS 1 which is caused by mutations in the NEUROFIBROMATOSIS 1 GENES. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D044542 |
|
| altLabel |
Cardiomyopathic Lentiginoses, Progressive LEOPARD Syndrome, 1 Cardiomyopathic Lentiginoses Cardiomyopathics, Lentiginosis Lentigines Syndromes, Multiple Lentiginosis Cardiomyopathics Multiple Lentigines Syndrome Cardiomyopathic, Lentiginosis Lentiginosis Cardiomyopathic Lentigines Syndrome, Multiple Lentiginosis, Cardiomyopathic Progressive Cardiomyopathic Lentiginoses Cardiomyopathic Lentiginosis, Progressive Lentiginosis, Progressive Cardiomyopathic Syndrome, LEOPARD Syndromes, Cardio-Cutaneous Syndrome, Multiple Lentigines Progressive Cardiomyopathic Lentiginosis Cardiomyopathic Lentiginosis Cardio-Cutaneous Syndrome Leopard Syndrome 1 Syndromes, Multiple Lentigines Cardio Cutaneous Syndrome Cardio-Cutaneous Syndromes Lentiginoses, Progressive Cardiomyopathic Lentiginoses, Cardiomyopathic LEOPARD Syndromes Syndrome, Cardio-Cutaneous Syndromes, LEOPARD Multiple Lentigines Syndromes Noonan Syndrome with Multiple Lentigines |
|
| 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 |
C4551484 C0175704 |
|
| DC |
1 |
|
| definition |
An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abnormalities; ocular HYPERTELORISM; PULMONARY STENOSIS; abnormal genitalia; retardation of growth; and DEAFNESS or SENSORINEURAL HEARING LOSS). This syndrome is caused by mutations of PTPN11 gene encoding the non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11, and is an allelic to NOONAN SYNDROME. Features of LEOPARD syndrome overlap with those of NEUROFIBROMATOSIS 1 which is caused by mutations in the NEUROFIBROMATOSIS 1 GENES. |
|
| DX |
20040101 |
|
| FX |
D009456 D009634 |
|
| HN |
2004; use NEUROFIBROMATOSIS 1 2002 -2003 |
|
| 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 |
|
| Inverse of RO | ||
| Machine permutation |
2004; see NEUROFIBROMATOSIS 1 2002 -2003 |
|
| Mapped from | ||
| MDA |
20030709 |
|
| MMR |
20190705 |
|
| MN |
C17.800.621.430.530.550.525 C16.131.240.400.685 C16.131.077.525 C16.131.621.207.525 C14.280.400.695 C14.240.400.695 C05.660.207.525 C14.280.484.716.525 |
|
| notation |
D044542 |
|
| prefLabel |
LEOPARD Syndrome |
|
| TERMUI |
T431506 T842086 T834015 T532190 T842087 T825009 T812080 T842084 T834016 |
|
| TH |
OMIM (2013) NLM (2002) NLM (2004) GHR (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D019465 http://purl.bioontology.org/ontology/MESH/D007911 http://purl.bioontology.org/ontology/MESH/D011666 |