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:
Abnormal skeletal morphology (HP:0011842)

Parent Node:
Abnormality of the outer ear (HP:0000356)

Parent Node:
obsolete Abnormality of cartilage morphology (HP:0410007)

..Starting node
..Abnormality of cartilage of external ear (HP:3000022)

Term ID:

3000022

Name:

Abnormality of cartilage of external ear

Synonym:

Definition:

An abnormality of a cartilage of external ear.

Comments:

Reference:

HP:3000022

Genes and Diseases:

Child Nodes:

........

Calcification of the auricular cartilage (HP:0005103)

........

Abnormality of the crus of the helix (HP:0009895)

................... HP:0009897 Horizontal crus of helix
................... HP:0009898 Underdeveloped crus of the helix
................... HP:0009899 Prominent crus of helix
................... HP:0011255 Absent crus of helix
................... HP:0011256 Crus of helix connected to antihelix
................... HP:0011257 Serpiginous crus of helix
................... HP:0011258 Tragal bridge of crus of helix
................... HP:0011259 Expanded terminal portion of crus of helix

Sister Nodes:

Abnormal cricoid cartilage morphology (HP:3000038)

Abnormality nasal septum cartilage morphology (HP:3000034)

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:3000022	HP:3000022	Abnormality of cartilage of external ear	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy		415
HP:3000022	HP:3000022	Abnormality of cartilage of external ear	0	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome		6
HP:3000022	HP:3000022	Abnormality of cartilage of external ear	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy		151
HP:3000022	HP:3000022	Abnormality of cartilage of external ear	0	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome		175
HP:3000022	HP:3000022	Abnormality of cartilage of external ear	0	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome		175
HP:3000022	HP:3000022	Abnormality of cartilage of external ear	0	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome		145
HP:3000022	HP:3000022	Abnormality of cartilage of external ear	0	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome		2
HP:3000022	HP:3000022	Abnormality of cartilage of external ear	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:3000022	HP:3000022	Abnormality of cartilage of external ear	0	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome		33
HP:3000022	HP:3000022	Abnormality of cartilage of external ear	0	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:3000022	HP:3000022	Abnormality of cartilage of external ear	0	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome		82
HP:3000022	HP:3000022	Abnormality of cartilage of external ear	0	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:3000022	HP:3000022	Abnormality of cartilage of external ear	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4		31
HP:3000022	HP:3000022	Abnormality of cartilage of external ear	0	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome		18
HP:3000022	HP:3000022	Abnormality of cartilage of external ear	0	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome		18
HP:3000022	HP:3000022	Abnormality of cartilage of external ear	0	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome		17
HP:3000022	HP:3000022	Abnormality of cartilage of external ear	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17
HP:3000022	HP:3000022	Abnormality of cartilage of external ear	0	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:3000022	HP:0005103	Calcification of the auricular cartilage	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040284 - Very rare	415
HP:3000022	HP:0009895	Abnormality of the crus of the helix	1	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	6
HP:3000022	HP:0005103	Calcification of the auricular cartilage	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040284 - Very rare	151
HP:3000022	HP:0009895	Abnormality of the crus of the helix	1	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome		175
HP:3000022	HP:0009895	Abnormality of the crus of the helix	1	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome		175
HP:3000022	HP:0009895	Abnormality of the crus of the helix	1	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome		145
HP:3000022	HP:0009895	Abnormality of the crus of the helix	1	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	2
HP:3000022	HP:0009895	Abnormality of the crus of the helix	1	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:3000022	HP:0005103	Calcification of the auricular cartilage	1	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.	33
HP:3000022	HP:0009895	Abnormality of the crus of the helix	1	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:3000022	HP:0009895	Abnormality of the crus of the helix	1	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	82
HP:3000022	HP:0009895	Abnormality of the crus of the helix	1	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:3000022	HP:0009895	Abnormality of the crus of the helix	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4		31
HP:3000022	HP:0009895	Abnormality of the crus of the helix	1	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome		18
HP:3000022	HP:0009895	Abnormality of the crus of the helix	1	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome		18
HP:3000022	HP:0005103	Calcification of the auricular cartilage	1	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome	HP:0040281 - Very frequent	17
HP:3000022	HP:0005103	Calcification of the auricular cartilage	1	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17
HP:3000022	HP:0009895	Abnormality of the crus of the helix	1	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:3000022	HP:0011256	Crus of helix connected to antihelix	2	CL E G H
HP:3000022	HP:0009898	Underdeveloped crus of the helix	2	CL E G H
HP:3000022	HP:0011259	Expanded terminal portion of crus of helix	2	CL E G H
HP:3000022	HP:0011258	Tragal bridge of crus of helix	2	CL E G H
HP:3000022	HP:0011257	Serpiginous crus of helix	2	CL E G H
HP:3000022	HP:0009899	Prominent crus of helix	2	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	175
HP:3000022	HP:0009899	Prominent crus of helix	2	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.	175
HP:3000022	HP:0009899	Prominent crus of helix	2	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	145
HP:3000022	HP:0009899	Prominent crus of helix	2	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:3000022	HP:0009899	Prominent crus of helix	2	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:3000022	HP:0009899	Prominent crus of helix	2	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:3000022	HP:0011255	Absent crus of helix	2	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040283 - Occasional	31
HP:3000022	HP:0009899	Prominent crus of helix	2	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.	18
HP:3000022	HP:0009899	Prominent crus of helix	2	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	18
HP:3000022	HP:0009897	Horizontal crus of helix	2	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4

Genes (15) :ABCC6 EDN1 ENPP1 FGFR2 FGFR3 GNAI3 HS2ST1 MGP NSD2 PLCB4 STEEP1 TCTN3 TWIST1 ZBTB20 ZNF462

Diseases (12) :ORPHA:51608 ORPHA:137888 OMIM:101400 ORPHA:794 OMIM:619194 OMIM:245150 OMIM:619695 OMIM:301013 ORPHA:2753 ORPHA:3042 OMIM:259050 OMIM:618619

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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