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Congenital Hypotrichosis With Juvenile Macular Dystrophy

Disease ID: disease_node_14196

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Dbxref	GARD:3066, MIM:601553
Subclassof	DOID_0080015, DOID_4535, DOID_0050737
Data Source	DOID
Synonyms	HJMD, hypotrichosis with cone-rod dystrophy
Doid Label	congenital hypotrichosis with juvenile macular dystrophy
Doid Description	A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the CDH3 gene on chromosome 16q22.1.
Existence Starts During	HP_0011462
Has Material Basis In	GENO_0000148
Disease Node Id	disease_node_14196
Doid Id	DOID_0110711
Disease Has Basis In	HP_0001197
Label	Congenital Hypotrichosis With Juvenile Macular Dystrophy

Outgoing r'ship SUBCLASS_OF to/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)
Outgoing r'ship SUBCLASS_OF to/from Physical Disorder(ID:disease_node_13159) (Disease)
Outgoing r'ship SUBCLASS_OF to/from Hypotrichosis(ID:disease_node_4232) (Disease)

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