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 outer ear (HP:0000356)

Parent Node:
Abnormal pinna morphology (HP:0000377)

..Starting node
..Lop ear (HP:0000394)

Term ID:

394

Name:

Lop ear

Synonym:

Definition:

Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha.

Comments:

Reference:

HP:0000394

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal antihelix morphology (HP:0009738)

Abnormal antitragus morphology (HP:0009896)

Abnormal earlobe morphology (HP:0000363)

Abnormal helix morphology (HP:0011039)

Abnormal number of tubercles (HP:0040112)

Abnormal tragus morphology (HP:0009912)

Asymmetry of the ears (HP:0010722)

Auricular pit (HP:0030025)

Auricular tag (HP:0030021)

Calcification of the auricular cartilage (HP:0005103)

Chondritis of pinna (HP:0200047)

Crumpled ear (HP:0009901)

Cryptotia (HP:0011252)

Cupped ear (HP:0000378)

Cystic lesions of the pinnae (HP:0010723)

Hypoplasia of the ear cartilage (HP:0100720)

Long ear (HP:0400004)

Macrotia (HP:0000400)

Microtia (HP:0008551)

Mozart ear (HP:0030677)

Protruding ear (HP:0000411)

Quelprud nodule (HP:0030023)

Question mark ear (HP:0030022)

Round ear (HP:0100830)

Satyr ear (HP:0030676)

Short ear (HP:0400005)

Thickened ears (HP:0009894)

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:0000394	HP:0000394	Lop ear	0	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome	.	13
HP:0000394	HP:0000394	Lop ear	0	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome	HP:0040281 - Very frequent	7
HP:0000394	HP:0000394	Lop ear	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0000394	HP:0000394	Lop ear	0	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I	.	660
HP:0000394	HP:0000394	Lop ear	0	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA		5
HP:0000394	HP:0000394	Lop ear	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124

Genes (6) :C12ORF57 CCNQ CHD7 COL5A1 IGBP1 SALL1

Diseases (6) :OMIM:218340 ORPHA:140952 OMIM:214800 OMIM:130000 OMIM:300472 OMIM:107480

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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