hemophilia B - Ontology Report - Rat Genome Database

ONTOLOGY REPORT - ANNOTATIONS

Term:	hemophilia B	go back to main search page
Accession:	DOID:12259	browse the term
Definition:	A deficiency of blood coagulation factor IX inherited as an X-linked disorder. (Also known as Christmas Disease, after the first patient studied in detail, not the holy day.) Historical and clinical features resemble those in classic hemophilia (HEMOPHILIA A), but patients present with fewer symptoms. Severity of bleeding is usually similar in members of a single family. Many patients are asymptomatic until the hemostatic system is stressed by surgery or trauma. Treatment is similar to that for hemophilia A. (From Cecil Textbook of Medicine, 19th ed, p1008)
Synonyms:	exact_synonym:	Christmas disease; F9 Deficiency; F9 deficiencies; Factor IX Deficiencies; Factor IX Deficiency; HEMB; HEMOPHILIA B, FACTOR IX DEFICIENCY; HEREDITARY FACTOR IX DEFICIENCY DISEASE; Haemophilia B; Hemophilia B Brandenburg; Hemophilia B(M); congenital factor IX deficiency; congenital factor IX disorder; deficiency, functional factor IX; hemophilia Bs (M); plasma thromboplastin component deficiency
	narrow_synonym:	HEMOPHILIA B LEYDEN; PLASMA THROMBOPLASTIN COMPONENT DEFICIENCY HEMOPHILIA B(M)
	primary_id:	MESH:D002836
	alt_id:	OMIA:000438; OMIM:306900; RDO:0005214
	xref:	GARD:8732; ICD10CM:D67; ICD9CM:286.1; NCI:C26721
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants view all columns Sort by:

Rat (7) Mouse (7) Human (199) Chinchilla (7) Bonobo (6) Dog (7) Squirrel (7) Pig (7) All
Genes (7)

hemophilia B

Symbol

Object Name

JBrowse

Chr

Start

Stop

Reference

Atp11c

ATPase phospholipid transporting 11C

143,340,712

143,525,588

coagulation factor II

80,529,468

80,542,993

coagulation factor VIII

367,862

399,242

coagulation factor IX

143,097,507

143,141,791

hypothetical protein LOC688842

143,554,334

143,596,247

MCF.2 cell line derived transforming sequence

143,159,071

143,292,467

SRY-box transcription factor 3

144,035,162

144,037,364

Term paths to the root

Path 1
Term	Annotations
disease	15502
disease of anatomical entity	14856
hematopoietic system disease	1469
hemorrhagic disease	491
hemophilia B	7
Path 2
Term	Annotations
disease	15502
Developmental Diseases	8872
Congenital, Hereditary, and Neonatal Diseases and Abnormalities	7669
genetic disease	7157
monogenic disease	4798
X-linked monogenic disease	856
X-linked recessive disease	212
hemophilia B	7

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)