Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal pattern of respiration (HP:0002793)

Parent Node:
Apnea (HP:0002104)

..Starting node
..Apneic episodes in infancy (HP:0005949)

Term ID:

5949

Name:

Apneic episodes in infancy

Synonym:

Definition:

Recurrent episodes of apnea occurring during infancy.

Comments:

Reference:

HP:0005949

Genes and Diseases:

Child Nodes:

Sister Nodes:

Apneic episodes precipitated by illness, fatigue, stress (HP:0002872)

Central apnea (HP:0002871)

Sleep apnea (HP:0010535)

Sudden episodic apnea (HP:0002882)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005949	HP:0005949	Apneic episodes in infancy	0	ACADSB CL E G H	36	91	OMIM:610006	2-Methylbutyryl-Coa dehydrogenase deficiency	.	111
HP:0005949	HP:0005949	Apneic episodes in infancy	0	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2		247
HP:0005949	HP:0005949	Apneic episodes in infancy	0	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040283 - Occasional	64
HP:0005949	HP:0005949	Apneic episodes in infancy	0	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90		1
HP:0005949	HP:0005949	Apneic episodes in infancy	0	HACD1 CL E G H	9200	9639	OMIM:619967			2
HP:0005949	HP:0005949	Apneic episodes in infancy	0	NACC1 CL E G H	112939	20967	ORPHA:500545	Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract	HP:0040283 - Occasional	1
HP:0005949	HP:0005949	Apneic episodes in infancy	0	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2		42
HP:0005949	HP:0005949	Apneic episodes in infancy	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040284 - Very rare	133
HP:0005949	HP:0005949	Apneic episodes in infancy	0	SCN4A CL E G H	6329	10591	OMIM:608390	Myotonia, potassium-aggravated	.	263
HP:0005949	HP:0005949	Apneic episodes in infancy	0	SCN5A CL E G H	6331	10593	OMIM:272120	Sudden infant death syndrome	.	1134

Genes (10) :ACADSB CC2D2A FBP1 FGF13 HACD1 NACC1 NDUFS8 PLA2G6 SCN4A SCN5A

Diseases (10) :OMIM:610006 OMIM:619111 ORPHA:348 OMIM:301058 OMIM:619967 ORPHA:500545 OMIM:618222 ORPHA:35069 OMIM:608390 OMIM:272120

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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