loading...| Preferred Name | Multiple pterygium syndrome | |
| Synonyms |
Familial Pterygium Syndrome Escobar syndrome Multiple Pterygium Syndrome, Escobar Variant Lethal multiple pterygium syndrome Multiple Pterygium Syndrome, Nonlethal Type Multiple pterygium syndrome lethal type Pterygium syndrome Pterygium Syndrome, Multiple, Lethal Type Pterygium syndrome, multiple Pterygium universale Pterygium colli syndrome Multiple Pterygium Syndrome, Lethal Type Pterygium Multiple syndrome, lethal type |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C537377 |
|
| altLabel |
Familial Pterygium Syndrome Escobar syndrome Multiple Pterygium Syndrome, Escobar Variant Lethal multiple pterygium syndrome Multiple Pterygium Syndrome, Nonlethal Type Multiple pterygium syndrome lethal type Pterygium syndrome Pterygium Syndrome, Multiple, Lethal Type Pterygium syndrome, multiple Pterygium universale Pterygium colli syndrome Multiple Pterygium Syndrome, Lethal Type Pterygium Multiple syndrome, lethal type |
|
| cui |
C1854678 C0265261 |
|
| HM |
D008305 D000015 D012868 |
|
| Inverse of RB |
0 |
|
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D012868 |
|
| MDA |
20100825 |
|
| MeSH Frequency |
61 |
|
| MMR |
20150818 |
|
| notation |
C537377 |
|
| prefLabel |
Multiple pterygium syndrome |
|
| SC |
3 |
|
| Scope Statement |
Multiple pterygium syndromes comprise a group of multiple autosomal recessive congenital anomaly disorders characterized by webbing (pterygia) of the neck, elbows, and/or knees and joint contractures (ARTHROGRYPOSIS). They are traditionally divided into prenatally lethal type (OMIM: 253290), caused by mutations in the CHRNA1, CHRND, and CHRNG genes and characterized by more severe anomalies, malignant hyperthermia, and death in utero or shortly after birth. The non-lethal (Escobar) type is milder and caused by mutations in the CHRNG gene. OMIM: 265000 |
|
| TERMUI |
T800850 T742387 T806666 T800849 T842088 T742390 T742389 T742386 T742392 T742393 T742391 T742395 T742388 T806665 |
|
| TH |
OMIM (2013) GHR (2014) ORD (2010) |
|
| tui |
T047 T019 |