Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 respiratory system (HP:0002086)

Parent Node:
Abnormal respiratory system physiology (HP:0002795)

..Starting node
..Recurrent singultus (HP:0100247)

Term ID:

100247

Name:

Recurrent singultus

Synonym:

Hiccup; Hiccups; Recurrent hiccough; Recurrent hiccup; Recurrent synchronous diaphragmatic flutter

Definition:

A contraction of the diaphragm that repeats several times per minute. In humans, the abrupt rush of air into the lungs causes the epiglottis to close, creating a hic sound. Also known as synchronous diaphragmatic flutter (SDF), or singultus, from the Latin singult, the act of catching one's breath while sobbing. The hiccup is an involuntary action involving a reflex arc.

Comments:

Reference:

HP:0100247

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal blood gas level (HP:0012415)

Abnormal breath sound (HP:0030829)

Abnormal bronchus physiology (HP:0025427)

Abnormal mucociliary clearance (HP:0031602)

Abnormal nasal mucus secretion (HP:0031416)

Abnormal pattern of respiration (HP:0002793)

Abnormal respiratory motile cilium physiology (HP:0012261)

Abnormal response to short acting pulmonary vasodilator (HP:0030893)

Abnormality of pulmonary circulation (HP:0030875)

Abnormality on pulmonary function testing (HP:0030878)

Airway obstruction (HP:0006536)

Aspiration (HP:0002835)

Asthma (HP:0002099)

Breathing dysregulation (HP:0005957)

Cough (HP:0012735)

Cyanosis (HP:0000961)

Dyspnea (HP:0002094)

obsolete Decreased pulmonary function (HP:0005952)

Reduced vital capacity (HP:0002792)

Respiratory insufficiency (HP:0002093)

Restrictive ventilatory defect (HP:0002091)

Sneeze (HP:0025095)

Snoring (HP:0025267)

Tracheal tug on inspiration (HP:0025008)

Upper airway obstruction (HP:0002781)

Weakness of muscles of respiration (HP:0004347)

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:0100247	HP:0100247	Recurrent singultus	0	AMT CL E G H	275	473	OMIM:605899	Glycine encephalopathy	.	56
HP:0100247	HP:0100247	Recurrent singultus	0	GCSH CL E G H	2653	4208	OMIM:605899	Glycine encephalopathy	.	5
HP:0100247	HP:0100247	Recurrent singultus	0	GLDC CL E G H	2731	4313	OMIM:605899	Glycine encephalopathy	.	166

Genes (3) :AMT GCSH GLDC

Diseases (1) :OMIM:605899

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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