Phenotypes for disease #02872 (OBAIRH (obesity, adrenal insufficiency, red hair (OBAIRH, proopiomelanocortin deficiency)), OMIM:609734)

7 entries on 1 page. Showing entries 1 - 7.
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AscendingPhenotype ID     
Phenotype details     
Diagnosis/Initial     
Diagnosis/Definite     
Inheritance     
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Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Protein     
Owner     
Individual ID     
0000291951 see paper; ..., obesity, red hair pigmentation and ACTH deficiency; brother 7m-died hepatic failure following severe cholestasis caused by adrenal insufficiency due to bilateral adrenal hypoplasia obesity, red hair pigmentation, ACTH defiiciency OBAIRH Familial, autosomal recessive 03y - - - - Johan den Dunnen 00398854
0000291953 see paper; ..., obesity, red hair pigmentation, ACTH defiiciency obesity, red hair pigmentation, ACTH defiiciency OBAIRH Familial, autosomal recessive 05y - - - - Johan den Dunnen 00398855
0000291955 see paper; ..., early-onset obesity, red hair, hypocortisolism, hypoglycemia, convulsions hypoglycemia, convulsions OBAIRH Familial, autosomal recessive - - - hypoglycemia, convulsions - Johan den Dunnen 00398857
0000291956 see paper; ..., 2d-low serum glucose levels, 4w-generalized convulsions, obesity, red hair pigmentation, ACTH defiiciency obesity, red hair pigmentation, ACTH defiiciency - Familial, autosomal recessive - - 00y00m02d low serum glucose levels - Johan den Dunnen 00398858
0000291957 see paper; ..., 6m-convulsions, hypoglycemia due to ACTH deficiency, red hair, pale skin - OBAIRH Familial, autosomal recessive - - 00y06m - - Johan den Dunnen 00398859
0000326917 see paper; ..., obesity, adrenal insufficiency, red hair syndrome - OBAIRH Familial, autosomal recessive - - - - - Johan den Dunnen 00436835
0000326919 see paper; ..., excessive body mass/height, red hair, hypoglycemia episodes, decrease in cortisol level - OBAIRH Familial, autosomal recessive - - - - - Johan den Dunnen 00436836
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