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Martsolf Syndrome 1 (MONDO:8000008)

This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.

Overview

Category

Ontology ID

Internal:29392

Synonyms

MARTSOLF syndrome

Martsolf syndrome

cataract-intellectual disability-hypogonadism syndrome

cataract-mental retardation-hypogonadism

cataract-intellectual disability-hypogonadism

Mapped terms

DOID:0111586

GARD:0003406

MEDGEN:1778114

MESH:C536028

OMIM:212720

Orphanet:1387

SCTID:722380003

UMLS:C5542298

Child terms

Unknown children.