ZFIN Human Disease: alpha thalassemia-X-linked intellectual disability syndrome

OBO ID: DOID:0110030

Term Name:	alpha thalassemia-X-linked intellectual disability syndrome		Search Ontology:
Synonyms:	alpha-thalassemia/mental retardation syndrome nondeletion type ATR, nondeletion type ATR-X syndrome
Definition:	An alpha thalassemia that has_material_basis_in mutation in the ATRX gene on Xq21. (2)
References:	GARD:5864 ICD10CM:D56.0 OMIM:301040 ORDO:847
Ontology:	Human Disease ( DOID:0110030 )

Relationships

is a type of:	alpha thalassemia X-linked dominant disease alpha thalassemia X-linked dominant disease Show first 5 Terms

OTHER alpha thalassemia-X-linked intellectual disability syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ATRX	atrx	Alpha-thalassemia/impaired intellectual development syndrome	301040

ZEBRAFISH MODELS

Fish	Conditions	Citations
atrx^zdf36/zdf36 (AB)	standard conditions	Oppel et al., 2019
tp53^zdf1/zdf1; atrx^zdf37/+; nf1a^p301/+; nf1b^p303/p303	standard conditions	Oppel et al., 2019

PHENOTYPE No data available

CITATIONS (1)