Biomaterial Database

Congenital erythropoietic porphyria. 1995

L Abraham, and P D Moses, and M Jacob, and C Kirubakaran, and R George

Department of Child Health, Christian Medical College Hospital, Vellore.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D010787	Photosensitivity Disorders	Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. It refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. With restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy.	Actinic Reticuloid Syndrome,Dermatitis, Actinic,Photodermatitis,Chronic Actinic Dermatitis,Photosensitization,Actinic Dermatitides,Actinic Dermatitides, Chronic,Actinic Dermatitis,Actinic Dermatitis, Chronic,Actinic Reticuloid Syndromes,Chronic Actinic Dermatitides,Dermatitides, Actinic,Dermatitides, Chronic Actinic,Dermatitis, Chronic Actinic,Disorder, Photosensitivity,Disorders, Photosensitivity,Photodermatitides,Photosensitivity Disorder,Reticuloid Syndrome, Actinic,Reticuloid Syndromes, Actinic,Syndrome, Actinic Reticuloid,Syndromes, Actinic Reticuloid
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D002921	Cicatrix	The fibrous tissue that replaces normal tissue during the process of WOUND HEALING.	Scars,Cicatrization,Scar,Scarring
D003241	Consanguinity	The magnitude of INBREEDING in humans.	Inbreeding, Human,Consanguineous Marriage,Consanguinous Mating,Consanguineous Marriages,Consanguinities,Consanguinous Matings,Human Inbreeding,Human Inbreedings,Inbreedings, Human,Marriage, Consanguineous,Marriages, Consanguineous,Mating, Consanguinous,Matings, Consanguinous
D005145	Face	The anterior portion of the head that includes the skin, muscles, and structures of the forehead, eyes, nose, mouth, cheeks, and jaw.	Faces
D005385	Fingers	Four or five slender jointed digits in humans and primates, attached to each HAND.	Finger
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D017092	Porphyria, Erythropoietic	An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoietic porphyria. This disease is characterized by SPLENOMEGALY; ANEMIA; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of UROPORPHYRINS and COPROPORPHYRINS.	Deficiency of Uroporphyrinogen III Synthase,Erythropoietic Porphyria,Gunther's Disease,Porphyria, Erythropoietic, Congenital,Uroporphyrinogen III Synthase, Deficiency of,Congenital Erythropoietic Porphyria,Gunther Disease,Porphyria, Congenital Erythropoietic,UROS Deficiency,Congenital Erythropoietic Porphyrias,Erythropoietic Porphyria, Congenital,Erythropoietic Porphyrias,Erythropoietic Porphyrias, Congenital,Gunthers Disease,Porphyrias, Congenital Erythropoietic,Porphyrias, Erythropoietic