Pharos: male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome (undefined associated targets)

Disease Summary

Associated Targets ()

Mondo Description

This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.

Mondo Term and Equivalent IDs

MONDO:0010617: male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome

MESH:C564406:

OMIM:307500: HYPOGONADISM, MALE, WITH MENTAL RETARDATION AND SKELETAL ANOMALIES

Orphanet:2234:

SCTID:722459008: