loading...| Preferred Name |
Multiple pterygium syndrome |
| Synonyms |
Lethal multiple pterygium syndrome |
| ID |
http://purl.bioontology.org/ontology/MESH/C537377 |
| altLabel |
Lethal multiple pterygium syndrome Familial Pterygium Syndrome Pterygium syndrome, multiple Pterygium syndrome Pterygium Syndrome, Multiple, Lethal Type Multiple Pterygium Syndrome, Lethal Type Escobar syndrome Pterygium Multiple syndrome, lethal type Pterygium universale Multiple Pterygium Syndrome, Escobar Variant Pterygium colli syndrome Multiple pterygium syndrome lethal type Multiple Pterygium Syndrome, Nonlethal Type |
| cui |
C0265261 C1854678 |
| HM |
D000015 D008305 D012868 |
| Inverse of RB |
0 |
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D012868 |
| MDA |
20100825 |
| MeSH Frequency |
46 |
| 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 |
T806665 T742390 T742387 T742395 T800849 T742386 T806666 T800850 T742393 T742392 T742389 T742391 T742388 T842088 |
| TH |
ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T019 T047 |