Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	Pitt-Hopkins syndrome
Definitions	A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures, and distinctive facial features and that has_material_basis_in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21.
ID	http://purl.obolibrary.org/obo/DOID_0060488
database_cross_reference	GARD:4372 SNOMEDCT_US_2022_09_01:702344008 MESH:C537403 OMIM:610954 UMLS_CUI:C1970431 NCI:C129872 ORDO:2896
definition	A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures, and distinctive facial features and that has_material_basis_in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21.
has material basis in	http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace	disease_ontology
id	DOID:0060488
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim http://purl.obolibrary.org/obo/doid#DO_FlyBase_slim http://purl.obolibrary.org/obo/doid#NCIthesaurus
label	Pitt-Hopkins syndrome
notation	DOID:0060488
prefLabel	Pitt-Hopkins syndrome
subClassOf	http://purl.obolibrary.org/obo/DOID_225 http://purl.obolibrary.org/obo/DOID_0050736

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C537403	Medical Subject Headings	LOOM
	http://purl.bioontology.org/ontology/OMIM/610954	Online Mendelian Inheritance in Man	LOOM