Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
Preferred Name

PITUITARY HORMONE DEFICIENCY, COMBINED, 2
Synonyms

ATELIOTIC DWARFISM WITH HYPOGONADISM

PITUITARY DWARFISM III

CPHD2

PANHYPOPITUITARISM

HANHART DWARFISM

ID

http://purl.bioontology.org/ontology/OMIM/262600

altLabel

ATELIOTIC DWARFISM WITH HYPOGONADISM

PITUITARY DWARFISM III

CPHD2

PANHYPOPITUITARISM

HANHART DWARFISM

cui

C0242343

C0878683

Gene Locus

5q

Gene Symbol

PROP1

CPHD2

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU067812

http://purl.bioontology.org/ontology/OMIM/MTHU067807

http://purl.bioontology.org/ontology/OMIM/MTHU067802

http://purl.bioontology.org/ontology/OMIM/MTHU003093

http://purl.bioontology.org/ontology/OMIM/MTHU067808

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

http://purl.bioontology.org/ontology/OMIM/MTHU067810

http://purl.bioontology.org/ontology/OMIM/MTHU025003

http://purl.bioontology.org/ontology/OMIM/MTHU047145

http://purl.bioontology.org/ontology/OMIM/MTHU067813

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU052352

http://purl.bioontology.org/ontology/OMIM/MTHU000048

http://purl.bioontology.org/ontology/OMIM/MTHU036721

http://purl.bioontology.org/ontology/OMIM/MTHU067809

http://purl.bioontology.org/ontology/OMIM/MTHU067811

http://purl.bioontology.org/ontology/OMIM/MTHU067804

http://purl.bioontology.org/ontology/OMIM/MTHU030735

http://purl.bioontology.org/ontology/OMIM/MTHU000051

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

http://purl.bioontology.org/ontology/OMIM/MTHU067803

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

http://purl.bioontology.org/ontology/OMIM/MTHU067805

http://purl.bioontology.org/ontology/OMIM/MTHU004823

http://purl.bioontology.org/ontology/OMIM/MTHU002670

http://purl.bioontology.org/ontology/OMIM/MTHU067806

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

262600

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

PITUITARY HORMONE DEFICIENCY, COMBINED, 2

Scope Statement

Age at diagnosis, 9 months to 8 years [MISCELLANEOUS]

Initial presentation is growth retardation caused by either GH or TSH deficiency [MISCELLANEOUS]

Caused by mutation in PROP paired-like homeobox 1 gene (PROP1, 601538.0001) [MOLECULAR BASIS]

tui

T047

Delete Subject Author Type Created
No notes to display