isolated cryptophthalmia - Ontology Report

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:	isolated cryptophthalmia	go back to main search page
Accession:	DOID:0111717	browse the term
Definition:	A cryptophthalmia characterized by absence of the eyelids with skin covering the eye and often an underlying malformed eye. (DO)
Synonyms:	exact_synonym:	CRYPTOP; Cryptophthalmos with Microphthalmia and Peters Anomaly; isolated unilateral or bilateral cryptophthalmos; simple ankyloblepharon
	broad_synonym:	FREM2-RELATED CONDITION
	primary_id:	MESH:C565138
	alt_id:	OMIM:123570
	xref:	ORDO:91396

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Genes (2)

isolated cryptophthalmia

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

FREM1

FRAS1 related extracellular matrix 1

ISO

DNA:deletion, frame shift:cds, splice junction:
DNA:missense mutation:cds:c.1687A>T c (p.I563F)(mouse)

RGD

PMID:23221805 PMID:23536828

RGD:11554181 RGD:11554185

NCBI chr12:64,681,181...64,849,266

FREM2

FRAS1 related extracellular matrix 2

ISO

ClinVar Annotator: match by term: Isolated cryptophthalmia

OMIM
ClinVar

PMID:9536098 PMID:17576681 PMID:18203166 PMID:24115501 PMID:25741868 More...

NCBI chr 3:17,121,063...17,310,149
Ensembl chr 3:17,129,126...17,300,363

Term paths to the root

Path 1
Term	Annotations
disease	15274
physical disorder	4829
cryptophthalmia	19
isolated cryptophthalmia	2
complete cryptophthalmia	0
congenital symblepharon	0
partial cryptophthalmia	0
Path 2
Term	Annotations
disease	15274
Pathological Conditions, Signs and Symptoms	11782
Signs and Symptoms	9746
Neurologic Manifestations	9424
sensory system disease	6524
eye disease	3346
eyelid disease	95
cryptophthalmia	19
isolated cryptophthalmia	2
complete cryptophthalmia	0
congenital symblepharon	0
partial cryptophthalmia	0

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RGD DISEASE ONTOLOGY - ANNOTATIONS