PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES

MENDENHALL SYNDROME

http://purl.bioontology.org/ontology/OMIM/262190

MENDENHALL SYNDROME

RABSON-MENDENHALL SYNDROME

C0271695

19p13.2

INSR

HHF5

http://purl.bioontology.org/ontology/OMIM/MTHU010102

http://purl.bioontology.org/ontology/OMIM/MTHU010111

http://purl.bioontology.org/ontology/OMIM/MTHU010101

http://purl.bioontology.org/ontology/OMIM/MTHU000258

http://purl.bioontology.org/ontology/OMIM/MTHU010109

http://purl.bioontology.org/ontology/OMIM/MTHU000372

http://purl.bioontology.org/ontology/OMIM/MTHU036754

http://purl.bioontology.org/ontology/OMIM/MTHU001050

http://purl.bioontology.org/ontology/OMIM/MTHU037101

http://purl.bioontology.org/ontology/OMIM/MTHU000185

http://purl.bioontology.org/ontology/OMIM/MTHU010112

http://purl.bioontology.org/ontology/OMIM/MTHU010099

http://purl.bioontology.org/ontology/OMIM/MTHU010103

http://purl.bioontology.org/ontology/OMIM/MTHU006804

http://purl.bioontology.org/ontology/OMIM/MTHU000512

http://purl.bioontology.org/ontology/OMIM/MTHU010107

http://purl.bioontology.org/ontology/OMIM/MTHU010105

http://purl.bioontology.org/ontology/OMIM/MTHU002092

http://purl.bioontology.org/ontology/OMIM/MTHU010110

http://purl.bioontology.org/ontology/OMIM/MTHU010100

http://purl.bioontology.org/ontology/OMIM/MTHU010104

http://purl.bioontology.org/ontology/OMIM/MTHU010106

http://purl.bioontology.org/ontology/OMIM/MTHU000260

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU002075

http://purl.bioontology.org/ontology/OMIM/MTHU010108

Phenotype description, molecular basis known.

262190

3

pound

PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES

Caused by mutation in the insulin receptor gene (INSR, 147670.0012) [MOLECULAR BASIS]

Survival to 5-15 years of age [MISCELLANEOUS]

Allelic to leprechaunism (246200) and insulin-resistant diabetes mellitus with acanthosis nigricans (147670) [MISCELLANEOUS]

Onset of acanthosis nigricans correlates with onset of diabetes [MISCELLANEOUS]

T047