Human Phenotype Ontology

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 larynx (HP:0001600)

Parent Node:
Abnormal larynx morphology (HP:0025423)

..Starting node
..Laryngeal hypoplasia (HP:0008749)

Term ID:

8749

Name:

Laryngeal hypoplasia

Synonym:

Hypoplastic larynx

Definition:

Underdevelopment of the larynx.

Comments:

Reference:

HP:0008749

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal aryepiglottic fold morphology (HP:0008744)

Abnormal cricoid cartilage morphology (HP:3000038)

Abnormal epiglottis morphology (HP:0005483)

Abnormal lateral cricoarytenoid muscle morphology (HP:3000067)

Abnormal vocal cord morphology (HP:0008777)

Anteroposteriorly shortened larynx (HP:0005956)

Cartilaginous ossification of larynx (HP:0008747)

Laryngeal atresia (HP:0008750)

Laryngeal calcification (HP:0008754)

Laryngeal cartilage malformation (HP:0008752)

Laryngeal cleft (HP:0008751)

Laryngeal cyst (HP:0100640)

Laryngeal edema (HP:0012027)

Laryngeal obstruction (HP:0005945)

Laryngeal stenosis (HP:0001602)

Laryngeal web (HP:0005950)

Laryngomalacia (HP:0001601)

Subglottic stenosis (HP:0001607)

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:0008749	HP:0008749	Laryngeal hypoplasia	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0008749	HP:0008749	Laryngeal hypoplasia	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0008749	HP:0008749	Laryngeal hypoplasia	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0008749	HP:0008749	Laryngeal hypoplasia	0	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome	HP:0040282 - Frequent	196
HP:0008749	HP:0008749	Laryngeal hypoplasia	0	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex	.	4
HP:0008749	HP:0008749	Laryngeal hypoplasia	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49

Genes (6) :CILK1 HYLS1 INTU KRAS PRRX1 SF3B4

Diseases (6) :OMIM:612651 OMIM:236680 OMIM:617925 ORPHA:3339 OMIM:202650 OMIM:154400

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