Carvajal syndrome - Ontology Browser

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Carvajal syndrome (DOID:0090128)
Annotations: Rat: (3) Mouse: (3) Human: (5) Chinchilla: (3) Bonobo: (3) Dog: (3) Squirrel: (3) Pig: (3)

Parent Terms

Term With Siblings

Child Terms

dilated cardiomyopathy + is-a

Naxos disease + is-a

PALMOPLANTAR KERATODERMA AND WOOLLY HAIR + is-a

3-methylglutaconic aciduria type 5

Cardiac Conduction Disease with or without Dilated Cardiomyopathy

Carvajal syndrome +

A Naxos disease that is characterized by dilated cardiomyopathy, woolly hair, and keratoderma that has_material_basis_in homozygous mutation in the desmoplakin gene on chromosome 6p24. (DO)

catecholaminergic polymorphic ventricular tachycardia 1

dilated cardiomyopathy 1A

dilated cardiomyopathy 1AA

dilated cardiomyopathy 1B

dilated cardiomyopathy 1BB

dilated cardiomyopathy 1C

dilated cardiomyopathy 1CC

dilated cardiomyopathy 1D

dilated cardiomyopathy 1DD

dilated cardiomyopathy 1E

dilated cardiomyopathy 1EE

dilated cardiomyopathy 1FF

dilated cardiomyopathy 1G

dilated cardiomyopathy 1GG

dilated cardiomyopathy 1H

dilated cardiomyopathy 1HH

dilated cardiomyopathy 1I

dilated cardiomyopathy 1II

dilated cardiomyopathy 1J

dilated cardiomyopathy 1JJ

dilated cardiomyopathy 1K

dilated cardiomyopathy 1KK

dilated cardiomyopathy 1L

dilated cardiomyopathy 1M

dilated cardiomyopathy 1NN

dilated cardiomyopathy 1O

Dilated Cardiomyopathy 1OO

dilated cardiomyopathy 1P

dilated cardiomyopathy 1Q

dilated cardiomyopathy 1R

dilated cardiomyopathy 1S

dilated cardiomyopathy 1T

dilated cardiomyopathy 1U

dilated cardiomyopathy 1V

dilated cardiomyopathy 1W

dilated cardiomyopathy 1X

dilated cardiomyopathy 1Y

dilated cardiomyopathy 1Z

dilated cardiomyopathy 2A

dilated cardiomyopathy 2B

dilated cardiomyopathy 2C

dilated cardiomyopathy 2D

dilated cardiomyopathy 2E

dilated cardiomyopathy 2F

dilated cardiomyopathy 2G

Dilated Cardiomyopathy 2H

Dilated Cardiomyopathy 3A

Dilated Cardiomyopathy with Left Ventricular Noncompaction +

Dilated Cardiomyopathy, Right Ventricular

dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

hypertrophic cardiomyopathy 25

Krasnow Qazi Syndrome

peripartum cardiomyopathy

Uhl Anomaly

Winship Viljoen Leary Syndrome

X-linked dilated cardiomyopathy +

Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis

Synonyms
Exact Synonyms:	DCWHK ; Epidermolytic palmoplantar keratoderma, woolly hair, and dilated cardiomyopathy ; dilated cardiomyopathy with woolly hair and keratoderma ; dilated cardiomyopathy, woolly hair, keratoderma ; palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair
Primary IDs:	MESH:C535581
Alternate IDs:	OMIM:605676 ; RDO:0000792
Xrefs:	GARD:5595 ; ORDO:65282
Definition Sources:	https://ghr.nlm.nih.gov/condition/keratoderma-with-woolly-hair "DO" "DO", https://www.omim.org/entry/605676 "DO" "DO"

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