Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies - Ontology Report

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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies	go back to main search page
Accession:	DOID:9003704	browse the term
Definition:	A disease characterized by mildly impaired global development, speech delay with nasal speech, and dysmorphic facial features, including high forehead, midface hypoplasia, micrognathia or high-arched palate, hypo/hypertelorism, upslanting palpebral fissures, and thin upper lip.
Synonyms:	exact_synonym:	IDNADFS
	primary_id:	MIM:618608
	xref:	EFO:0010630

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Genes (1)

Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Cnot2

CCR4-NOT transcription complex, subunit 2

ISO

ClinVar Annotator: match by term: Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies

OMIM
ClinVar

PMID:25741868 PMID:31145527 PMID:31512373

NCBI chr 7:52,130,445...52,222,338
Ensembl chr 7:52,130,441...52,223,575

Term paths to the root

Path 1
Term	Annotations
disease	19139
disease of anatomical entity	18451
musculoskeletal system disease	8462
Musculoskeletal Abnormalities	3458
Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies	1
Path 2
Term	Annotations
disease	19139
disease of anatomical entity	18451
nervous system disease	14361
central nervous system disease	12639
brain disease	11857
disease of mental health	8462
developmental disorder of mental health	5653
specific developmental disorder	4621
intellectual disability	4391
Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies	1

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RGD DISEASE ONTOLOGY - ANNOTATIONS