| Metadata | |
|---|---|
| ID | DOID:14759 |
| Name | autosomal recessive type IV Ehlers-Danlos syndrome |
| Definition | An Ehlers-Danlos syndrome that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits. https://pubmed.ncbi.nlm.nih.gov/28306229/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:70610001 |
| Synonyms |
Ehlers-Danlos syndrome, recessive type 4 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |