raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:231692

Isolated growth hormone deficiency type III

Synonyms: Congenital IGHD type III · Congenital isolated GH deficiency type III · Congenital isolated growth hormone deficiency type III · X-linked IGHD · X-linked isolated growth hormone deficiency

Type
Clinical subtype
Group
Subtype of disorder
Inheritance
X-linked recessive
Age of onset
Infancy, Neonatal
Status
active

Orphadata ships no English definition for this code.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enIsolated growth hormone deficiency type IIICongenital IGHD type III · Congenital isolated GH deficiency type III · Congenital isolated growth hormone deficiency type III · X-linked IGHD · X-linked isolated growth hormone deficiency
frInsuffisance somatotrope isolée type IIIDéficit congénital isolé en STH type III · Déficit congénital isolé en hormone de croissance lié à l'X · Déficit congénital isolé en hormone de croissance type III · Insuffisance somatotrope isolée liée à l'X
deWachstumshormonmangel, isolierter, Typ IIIGH-Mangel, isolierter kongenitaler, Typ III · IGHD, X-chromosomal · IGHD, kongenitaler, Typ III · Wachstumshormonmangel, isolierter kongenitaler, Typ III · Wachstumshormonmangel, isolierter, X-chromosomaler
esDeficiencia aislada de hormona de crecimiento tipo IIIDeficiencia aislada de hormona de crecimiento ligada al cromosoma X · Deficiencia congénita aislada de GH tipo III · Deficiencia congénita aislada de hormona de crecimiento tipo III · IGHD congénito tipo III · IGHD ligado al cromosoma X
itDeficit isolato dell'ormone della crescita, tipo 3Deficit isolato congenito dell'ormone della crescita, tipo 3 · Deficit isolato congenito di GH, tipo 3 · Deficit isolato legato all'X dell'ormone della crescita · IGHD congenito, tipo 3 · IGHD legato all'X
nlGeïsoleerde groeihormoondeficiëntie type IIICongenitale IGHD type III · Congenitale geïsoleerde GH-deficiëntie type III · Congenitale geïsoleerde groeihormoondeficiëntie type III · X-gebonden IGHD · X-gebonden geïsoleerde groeihormoondeficiëntie
ptDeficiência isolada da hormona de crescimento tipo III
plIzolowany Niedobór hormonu wzrostu typu IIIIGHD sprzężony z chromosomem X · Izolowany Niedobór hormonu wzrostu sprzężony z chromosomem X · Wrodzony IGHD typu III · Wrodzony izolowany Niedobór GH typu III · Wrodzony izolowany Niedobór hormonu wzrostu typu III
csIzolovaný deficit růstového hormonu, typ IIIVrozený IGHD, typ III · Vrozený izolovaný GH deficit, typ III · X-vázaný IGHD · Vrozený izolovaný deficit růstového hormonu, typ III · X-vázaný izolovaný deficit růstového hormonu
ukІзольований дефіцит гормону росту, тип IIIВроджений IGHD типу III · Вроджений ізольований дефіцит гормону росту III типу · Вроджений ізольований дефіцит гормону росту III типу · Х-звязаний IGHD · Х-зчеплений ізольований дефіцит гормону росту
zh孤立性生长激素缺乏症III型先天性孤立性生长激素缺乏症III型
trİzole büyüme hormonu eksikliği tip IIIX'e bağlı IGHD · Doğumsal IGHD tip III · Doğumsal izole GH eksikliği tip III · X'e bağlı izole büyüme hormonu eksikliği · Doğumsal izole büyüme hormonu eksikliği tip III
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM300123BTNTvalidated
OMIM307200BTNTvalidated
ICD-10E23.0NTBTattributedvalidated
ICD-115A61.3NTBTattributedvalidated
MONDO0010615Evalidated
GARD3921Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

Children (2):

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card