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
..Cat cry (HP:0200046)

Term ID:

200046

Name:

Cat cry

Synonym:

Cat cry; cat-like cry; cri de chat-associated cry

Definition:

The presence of a characteristic high-pitched cry that sounds similar to the meowing of a kitten.

Comments:

Reference:

HP:0200046

Genes and Diseases:

Child Nodes:

Sister Nodes:

High-pitched cry (HP:0025430)

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:0200046	HP:0200046	Cat cry	0	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p	HP:0040281 - Very frequent	15
HP:0200046	HP:0200046	Cat cry	0	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p	HP:0040281 - Very frequent	6
HP:0200046	HP:0200046	Cat cry	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040282 - Frequent	546

Genes (3) :CTNND2 SEMA5A VPS13B

Diseases (2) :ORPHA:281 ORPHA:193

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