SEPTOOPTIC DYSPLASIA

PITUITARY HORMONE DEFICIENCY, COMBINED, 5

http://purl.bioontology.org/ontology/OMIM/182230

PITUITARY HORMONE DEFICIENCY, COMBINED, 5

CPHD5

DE MORSIER SYNDROME

GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES

C0338503

C2750027

3p21.2-p21.1

HESX1

RPX

CPHD5

http://purl.bioontology.org/ontology/OMIM/MTHU024665

http://purl.bioontology.org/ontology/OMIM/MTHU026394

http://purl.bioontology.org/ontology/OMIM/MTHU026390

http://purl.bioontology.org/ontology/OMIM/MTHU026392

http://purl.bioontology.org/ontology/OMIM/MTHU047583

http://purl.bioontology.org/ontology/OMIM/MTHU005338

http://purl.bioontology.org/ontology/OMIM/MTHU013463

http://purl.bioontology.org/ontology/OMIM/MTHU000196

http://purl.bioontology.org/ontology/OMIM/MTHU025889

http://purl.bioontology.org/ontology/OMIM/MTHU037147

http://purl.bioontology.org/ontology/OMIM/MTHU026389

http://purl.bioontology.org/ontology/OMIM/MTHU026393

http://purl.bioontology.org/ontology/OMIM/MTHU007672

http://purl.bioontology.org/ontology/OMIM/MTHU024668

http://purl.bioontology.org/ontology/OMIM/MTHU026391

http://purl.bioontology.org/ontology/OMIM/MTHU008770

http://purl.bioontology.org/ontology/OMIM/MTHU025883

http://purl.bioontology.org/ontology/OMIM/MTHU025881

Phenotype description, molecular basis known.

182230

3

pound

SEPTOOPTIC DYSPLASIA

Caused by mutation in the homeobox gene expressed in ES cells (HESX1, 601802.0001) [MOLECULAR BASIS]

Variable phenotype [MISCELLANEOUS]

Diagnosis made when at least 2/3 features present (optic nerve hypoplasia, hypopituitarism with pituitary hypoplasia, midline forebrain defects) [MISCELLANEOUS]

T047