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Hepatic Porphyrias (DOID:9005584)
Annotations: Rat: (17) Mouse: (17) Human: (17) Chinchilla: (16) Bonobo: (17) Dog: (16) Squirrel: (15)
Parent Terms Term With Siblings Child Terms
liver disease +     
porphyria +     
Absence of Fingerprints  
Actinic Prurigo  
acute porphyria +   
Albinism +   
Alcoholic Liver Diseases +   
alpha 1-antitrypsin deficiency  
alveolar echinococcosis 
Annular Erythema 
arterial tortuosity syndrome  
atopic dermatitis +   
Atrophia Maculosa Varioliformis Cutis, Familial 
autosomal recessive congenital ichthyosis +   
Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant 
Bloch-Sulzberger syndrome +   
Budd-Chiari syndrome +   
bullous congenital ichthyosiform erythroderma  
Buschke-Ollendorff Syndrome  
Carnitine Palmitoyltransferase II Deficiency, Infantile  
Chemical and Drug Induced Liver Injury +   
COACH Syndrome  
Collagenosis, Familial Reactive Perforating 
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
Cutaneous Bullous Amyloidosis 
cutaneous porphyria  
cutis laxa +   
Cyanosis and Hepatic Disease 
cystic echinococcosis 
Dowling-Degos disease +   
dyschromatosis universalis hereditaria +   
dyskeratosis congenita +   
ectodermal dysplasia +   
Ehlers-Danlos syndrome +   
epidermolysis bullosa +   
erythrokeratodermia variabilis +   
Erythrokeratodermia with Ataxia  
Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like  
fatty liver disease +   
Focal Nodular Hyperplasia 
Follicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts 
Gerodermia Osteodysplastica  
Glycogen Storage Disease 0, Liver  
GSD IV, Nonprogressive Hepatic 
Hailey-Hailey disease  
Hepatic Insufficiency +   
Hepatic Porphyrias +   
A group of metabolic diseases due to deficiency of one of a number of LIVER enzymes in the biosynthetic pathway of HEME. They are characterized by the accumulation and increased excretion of PORPHYRINS or its precursors. Clinical features include neurological symptoms (PORPHYRIA, ACUTE INTERMITTENT), cutaneous lesions due to photosensitivity (PORPHYRIA CUTANEA TARDA), or both (HEREDITARY COPROPORPHYRIA). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues.
hepatic tuberculosis 
hepatic vascular disease +   
hepatitis +   
Hepatomegaly +   
hepatopulmonary syndrome  
hepatorenal syndrome  
Hereditary Autoinflammatory Diseases +   
hereditary mucosal leukokeratosis  
Histiocytic Dermatoarthritis 
Hyaluronan Metabolism, Defect in 
ichthyosis vulgaris +   
intrahepatic cholestasis +   
Isolated Osteopoikilosis 
Juvenile Spring Eruption of Ears 
Keratolytic Winter Erythema  
keratosis follicularis +   
Keratosis Follicularis Spinulosa Decalvans, X-Linked  
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma  
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
lipoid proteinosis  
Liver Abscess +   
liver benign neoplasm +   
liver cancer +   
liver carcinoma in situ 
liver cirrhosis +   
Liver Fibrocystic Disease and Polydactyly 
liver inflammatory pseudotumor 
Liver Injury +   
mitochondrial DNA depletion syndrome 6  
monilethrix +   
Muir-Torre syndrome  
Multiple Noduli Cutanei with Urinary Tract Abnormalities 
orofaciodigital syndrome IX  
palmoplantar keratosis +   
Parana Hard Skin Syndrome 
Parasitic Liver Diseases +   
Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair 
peeling skin syndrome +   
peliosis hepatis  
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial 
Phosphoenolpyruvate Carboxykinase Deficiency +   
Plasminogen Deficiency, Type I  
Poikiloderma, Hereditary Sclerosing +   
polycystic echinococcosis 
polycystic liver disease +   
porokeratosis +   
portal hypertension +   
primary cutaneous amyloidosis  
Primary Localized Cutaneous Amyloidosis, 2  
Primary Localized Cutaneous Amyloidosis, 3  
Progressive Osseous Heteroplasia  
Progressive Vitiligo with Mental Retardation and Urethral Duplication 
Prolidase Deficiency  
pseudoxanthoma elasticum +   
Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations  
renal-hepatic-pancreatic dysplasia +   
Reticulate Pigmentary Disorder, with Systemic Manifestations  
Retinohepatoendocrinologic Syndrome 
Rothmund-Thomson syndrome +   
Sjogren-Larsson syndrome +   
Skin Fragility-Woolly Hair Syndrome  
Stiff Skin Syndrome  
Storm Syndrome 
Systemic Hyalinosis  
toxocariasis +   
Trichothiodystrophy Syndromes +   
tyrosinemia type II  
visceral leishmaniasis  
Vohwinkel Syndrome, Variant Form  
Wilson disease +   
X-linked ichthyosis +   
xeroderma pigmentosum +   
Yusho Disease 
Zellweger syndrome +   

Exact Synonyms: Hepatic Porphyria
Primary IDs: MESH:D017094 ;   RDO:0007027

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