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Term:
tyrosinemia type II (DOID:0050725)
Annotations: Rat: (1) Mouse: (1) Human: (2) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
liver disease +     
skin disease +     
tyrosinemia +     
Achenbach syndrome 
Acneiform Eruptions +   
adiaspiromycosis 
Alcoholic Liver Diseases +   
allergic cutaneous vasculitis +   
alpha 1-antitrypsin deficiency  
alveolar echinococcosis  
ancylostomiasis +  
angioedema +   
autoimmune disease of skin and connective tissue +   
Birt-Hogg-Dube syndrome  
Boudhina Yedes Khiari syndrome 
breast disease +   
Budd-Chiari syndrome +   
C syndrome  
capillariasis 
Carnitine Palmitoyltransferase II Deficiency, Infantile  
cercarial dermatitis 
chancroid +  
chronic ulcer of skin +   
clonorchiasis  
COACH syndrome  
coenurosis 
contagious pustular dermatitis 
Cutaneous Fistula 
cutaneous lupus erythematosus +   
cutis laxa +   
Cyanosis and Hepatic Disease 
cystic echinococcosis  
Dermal Fibrosis  
dermatitis +   
Dermatoleukodystrophy 
dermatomyositis +   
dipetalonemiasis 
Duplication of Eyebrows with Stretchable Skin and Syndactyly 
Ectodermal Dysplasia-Skin Fragility Syndrome  
Eczematous Skin Diseases +   
Elastosis Perforans Serpiginosa 
Elliott Ludman Teebi Syndrome 
endometriosis in scar of skin 
epidermal nevus +   
Erythema +   
erythematosquamous dermatosis 
exanthem +   
eyelid disease +   
FACES Syndrome 
facial dermatosis +   
Facial Ectodermal Dysplasia  
fatty liver disease +   
filariasis +   
Flynn Aird Syndrome 
Focal Nodular Hyperplasia 
Foot Diseases +   
Frank-Ter Haar syndrome  
Genetic Skin Diseases +   
Glycogen Storage Disease 0, Liver  
glycogen storage disease IX +   
glycogen storage disease VI  
granulomatosis with polyangiitis +   
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY  
GSD IV, Nonprogressive Hepatic 
hair disease +   
hand dermatosis +  
hawkinsinuria  
hemorrhoid +   
Hepatic Insufficiency +   
Hepatic Porphyrias +   
hepatic tuberculosis 
hepatic vascular disease +   
hepatitis +   
Hepatomegaly +   
hepatopulmonary syndrome  
hepatorenal syndrome  
Hernandez Fragoso Syndrome 
ichthyosis +   
Infectious Skin Diseases +   
INTERSTITIAL LUNG AND LIVER DISEASE  
intrahepatic cholestasis +   
juvenile xanthogranuloma 
keratosis +   
Kimura disease 
leg dermatosis 
lipomatosis +   
Liver Abscess +   
liver carcinoma in situ 
liver cirrhosis +   
Liver Fibrocystic Disease and Polydactyly 
liver inflammatory pseudotumor 
Liver Injury +   
Liver Neoplasms +   
localized scleroderma +   
loiasis 
Macroepiphyseal Dysplasia, McAlister Coe Type 
MASS Syndrome  
mastocytosis +   
Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps 
Mental Retardation, Joint Hypermobility, and Skin Laxity, with or without Metabolic Abnormalities 
Metabolic Skin Diseases +   
mitochondrial DNA depletion syndrome 6  
mongolian spot  
Morgellons Disease 
multicentric reticulohistiocytosis 
multiple cutaneous and mucosal venous malformations  
nail disease +   
necrobiosis lipoidica 
Necrobiotic Disorders +  
Necrolytic Migratory Erythema 
Nephrogenic Fibrosing Dermopathy  
noninfectious dermatoses of eyelid +  
opisthorchiasis  
otulipenia  
Papulosquamous Skin Diseases +   
paragonimiasis 
Parasitic Liver Diseases +   
peliosis hepatis  
phaeohyphomycosis +  
Phosphoenolpyruvate Carboxykinase Deficiency +   
photosensitivity disease +   
pigmentation disease +   
polycystic echinococcosis 
polycystic liver disease +   
portal hypertension +   
Prurigo  
Pruritus +   
Pseudo-TORCH Syndrome 2  
Pseudoatrophoderma Colli 
reactive cutaneous fibrous lesion +  
Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations  
renal-hepatic-pancreatic dysplasia +   
Retinohepatoendocrinologic Syndrome 
rosacea +   
Roy Maroteaux Kremp Syndrome 
scalp dermatosis +   
sebaceous gland disease +   
Skin Abnormalities +   
skin atrophy 
Skin Neoplasms +   
skin sarcoidosis 
strongyloidiasis  
sweat gland disease +   
toxocariasis +   
Trichohepatoneurodevelopmental Syndrome  
tyrosinemia type I  
tyrosinemia type II  
A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels. (DO)
tyrosinemia type III  
Upton Young Syndrome 
urticaria +   
vascular skin disease +   
verruciform xanthoma of skin 
vesiculobullous skin disease +   
visceral leishmaniasis  
Wilson disease +   
Zellweger syndrome +   

Synonyms
Exact Synonyms: Richner-Hanhart syndrome ;   Richner-Hanhart syndrome, tyrosinosis, oculocutaneous type ;   Richner-Hanhart syndromes ;   TYRSN2 ;   hereditary tyrosinemia type II ;   oculocutaneous tyrosinemia ;   type 2 tyrosinemia ;   type 2 tyrosinemias ;   type II tyrosinemias
Primary IDs: OMIM:276600
Xrefs: NCI:C129032 ;   ORDO:28378
Definition Sources: http://en.wikipedia.org/wiki/Tyrosinemia_type_II "DO", http://www.omim.org/entry/276600?search=276600&highlight=276600 "DO"

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