OBESITY, EARLY-ONSET, WITH ADRENAL INSUFFICIENCY AND RED HAIR

OBAIRH

PROOPIOMELANOCORTIN DEFICIENCY

http://purl.bioontology.org/ontology/OMIM/609734

OBAIRH

PROOPIOMELANOCORTIN DEFICIENCY

C1857854

2p23.3

POMC

OBAIRH

http://purl.bioontology.org/ontology/OMIM/MTHU060332

http://purl.bioontology.org/ontology/OMIM/MTHU068718

http://purl.bioontology.org/ontology/OMIM/MTHU060336

http://purl.bioontology.org/ontology/OMIM/MTHU003427

http://purl.bioontology.org/ontology/OMIM/MTHU038905

http://purl.bioontology.org/ontology/OMIM/MTHU060090

http://purl.bioontology.org/ontology/OMIM/MTHU060334

http://purl.bioontology.org/ontology/OMIM/MTHU068719

http://purl.bioontology.org/ontology/OMIM/MTHU061611

http://purl.bioontology.org/ontology/OMIM/MTHU037332

http://purl.bioontology.org/ontology/OMIM/MTHU008542

http://purl.bioontology.org/ontology/OMIM/MTHU007725

http://purl.bioontology.org/ontology/OMIM/MTHU003271

http://purl.bioontology.org/ontology/OMIM/MTHU006221

http://purl.bioontology.org/ontology/OMIM/MTHU024068

http://purl.bioontology.org/ontology/OMIM/MTHU004822

http://purl.bioontology.org/ontology/OMIM/MTHU060331

http://purl.bioontology.org/ontology/OMIM/MTHU009007

http://purl.bioontology.org/ontology/OMIM/MTHU040494

Phenotype description, molecular basis known.

609734

3

pound

OBESITY, EARLY-ONSET, WITH ADRENAL INSUFFICIENCY AND RED HAIR

Caused by mutation in the proopiomelanocortin gene (POMC, 176830.0001) [MOLECULAR BASIS]

Onset in infancy [MISCELLANEOUS]

Favorable response to treatment of hyperphagia with setmelanotide, a melanocortin-4 receptor agonist [MISCELLANEOUS]

Gonadotropin, growth hormone, and TSH deficiency may become apparent in the teenage years [MISCELLANEOUS]

T047