LARON SYNDROME

GROWTH HORMONE INSENSITIVITY SYNDROME

http://purl.bioontology.org/ontology/OMIM/262500

GROWTH HORMONE INSENSITIVITY SYNDROME

PITUITARY DWARFISM II

GROWTH HORMONE RECEPTOR DEFICIENCY

C0271568

5p13-p12

GHR

GHIP

http://purl.bioontology.org/ontology/OMIM/MTHU061558

http://purl.bioontology.org/ontology/OMIM/MTHU061561

http://purl.bioontology.org/ontology/OMIM/MTHU061555

http://purl.bioontology.org/ontology/OMIM/MTHU061568

http://purl.bioontology.org/ontology/OMIM/MTHU061556

http://purl.bioontology.org/ontology/OMIM/MTHU001789

http://purl.bioontology.org/ontology/OMIM/MTHU061565

http://purl.bioontology.org/ontology/OMIM/MTHU061563

http://purl.bioontology.org/ontology/OMIM/MTHU061557

http://purl.bioontology.org/ontology/OMIM/MTHU036699

http://purl.bioontology.org/ontology/OMIM/MTHU061569

http://purl.bioontology.org/ontology/OMIM/MTHU061567

http://purl.bioontology.org/ontology/OMIM/MTHU007700

http://purl.bioontology.org/ontology/OMIM/MTHU061559

http://purl.bioontology.org/ontology/OMIM/MTHU061560

http://purl.bioontology.org/ontology/OMIM/MTHU061564

http://purl.bioontology.org/ontology/OMIM/MTHU061562

http://purl.bioontology.org/ontology/OMIM/MTHU061566

http://purl.bioontology.org/ontology/OMIM/MTHU001802

Phenotype description, molecular basis known.

262500

3

pound

LARON SYNDROME

Distorted sex ratio (19F:2M) in Loja province Ecuador cases. [MISCELLANEOUS]

Caused by mutation in the growth hormone receptor gene (GHR, 600946.0001) [MOLECULAR BASIS]

T047