ZFIN Human Disease: autosomal recessive type IV Ehlers-Danlos syndrome

OBO ID: DOID:14759

Term Name:	autosomal recessive type IV Ehlers-Danlos syndrome		Search Ontology:
Synonyms:	Ehlers-Danlos syndrome, recessive type 4
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/
References:	SNOMEDCT_US_2023_03_01:70610001 UMLS_CUI:C0268340
Ontology:	Human Disease ( DOID:14759 )

Relationships

is a type of:	autosomal recessive disease Ehlers-Danlos syndrome autosomal recessive disease Ehlers-Danlos syndrome Show first 5 Terms

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Alliance (1)

GENES INVOLVED No data available

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None