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:
Abnormality of the voice (HP:0001608)

Parent Node:
Abnormal cry (HP:0025429)

..Starting node
..High-pitched cry (HP:0025430)

Term ID:

25430

Name:

High-pitched cry

Synonym:

Definition:

A type of crying in an abnormally high-pitched voice.

Comments:

Reference:

HP:0025430

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cat cry (HP:0200046)

Staccato cry (HP:0025431)

Weak cry (HP:0001612)

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:0025430	HP:0025430	High-pitched cry	0	ABAT CL E G H	18	23	OMIM:613163	GABA-transaminase deficiency	.	120
HP:0025430	HP:0025430	High-pitched cry	0	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99		150
HP:0025430	HP:0025430	High-pitched cry	0	ATP5F1A CL E G H	498	823	OMIM:615228	Mitochondrial complex V (atp synthase) deficiency, nuclear type 4	.
HP:0025430	HP:0025430	High-pitched cry	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0025430	HP:0025430	High-pitched cry	0	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome	HP:0040281 - Very frequent	950
HP:0025430	HP:0025430	High-pitched cry	0	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures	HP:0040282 - Frequent	92

Genes (6) :ABAT ATP1A3 ATP5F1A FIG4 MECP2 PNPO

Diseases (6) :OMIM:613163 OMIM:619606 OMIM:615228 OMIM:216340 ORPHA:778 ORPHA:79096

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