Isolated growth hormone deficiency type II

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Isolated growth hormone deficiency type II

ORPHA:231679Clinical subtype

Also called Congenital IGHD type II · Congenital isolated GH deficiency type II · Congenital isolated growth hormone deficiency type II

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Age of onset
Infancy, Neonatal
Inheritance
Autosomal dominant
Classified as
Clinical subtype

Recorded for the broader condition

Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.

Genes

GH1Disease-causing germline mutation(s)
POU1F1Disease-causing germline mutation(s) (gain of function)

ICD-10 codes

E23.0filed under a broader ICD-10 category — shared with 23 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Benefit programs to look at

Programs whose eligibility touches the same ICD-10 categories. Eligibility is decided by the administering agency, never by this page.

Cross-references

GARD 1696MESH C562704MONDO 0008250OMIM 173100OMIM 613038UMLS C0271567

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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