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:
Phenotypic abnormality (HP:0000118)

Parent Node:
Abnormality of the ear (HP:0000598)

..Starting node
..Abnormal ear morphology (HP:0031703)

Term ID:

31703

Name:

Abnormal ear morphology

Synonym:

Definition:

Any structural anomaly of the ear.

Comments:

Reference:

HP:0031703

Genes and Diseases:

Child Nodes:

........

Abnormality of the outer ear (HP:0000356)

................... HP:0000357 Abnormal location of ears
................... HP:0000372 Abnormality of the auditory canal
................... HP:0000377 Abnormality of the pinna
................... HP:0008572 External ear malformation
................... HP:0008605 Unilateral external ear deformity
................... HP:0008608 Hypertrophic auricular cartilage
................... HP:0008772 Aplasia/Hypoplasia of the external ear
................... HP:0009893 Telangiectasia of the ear
................... HP:0040090 Abnormality of the tympanic membrane
................... HP:0040095 Neoplasm of the outer ear
................... HP:0040111 Bilateral external ear deformity
................... HP:0100687 Polyotia
................... HP:0400002 Extra concha fold
................... HP:3000022 Abnormality of cartilage of external ear

........

Abnormality of the inner ear (HP:0000359)

................... HP:0011389 Functional abnormality of the inner ear
................... HP:0011390 Morphological abnormality of the inner ear
................... HP:0040096 Neoplasm of the inner ear
................... HP:0040099 Abnormality of the round window
................... HP:0040100 Abnormality of the vestibular window

........

Abnormality of the middle ear (HP:0000370)

................... HP:0000388 Otitis media
................... HP:0008609 Morphological abnormality of the middle ear
................... HP:0011452 Functional abnormality of the middle ear
................... HP:0040090 Abnormality of the tympanic membrane
................... HP:0040099 Abnormality of the round window
................... HP:0040100 Abnormality of the vestibular window
................... HP:0040115 Abnormality of the Eustachian tube
................... HP:0040262 Glue ear
................... HP:0040268 Recurrent infections of the middle ear
................... HP:0100799 Neoplasm of the middle ear

........

Aplasia/Hypoplasia of the ear (HP:0008771)

................... HP:0008772 Aplasia/Hypoplasia of the external ear
................... HP:0008773 Aplasia/Hypoplasia of the middle ear
................... HP:0008774 Aplasia/Hypoplasia of the inner ear

........

Neoplasm of the ear (HP:0012780)

................... HP:0040095 Neoplasm of the outer ear
................... HP:0040096 Neoplasm of the inner ear
................... HP:0100799 Neoplasm of the middle ear

Sister Nodes:

Abnormal ear physiology (HP:0031704)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0031703	HP:0031703	Abnormal ear morphology	0	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0031703	Abnormal ear morphology	0	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0000359	Abnormality of the inner ear	1	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0000370	Abnormality of the middle ear	1	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0012780	Neoplasm of the ear	1	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0000370	Abnormality of the middle ear	1	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0000359	Abnormality of the inner ear	1	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0012780	Neoplasm of the ear	1	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0000356	Abnormality of the outer ear	1	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0008771	Aplasia/Hypoplasia of the ear	1	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0000356	Abnormality of the outer ear	1	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0008771	Aplasia/Hypoplasia of the ear	1	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0000357	Abnormal location of ears	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0040100	Abnormality of the vestibular window	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0100799	Neoplasm of the middle ear	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0008774	Aplasia/Hypoplasia of the inner ear	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0008609	Morphological abnormality of the middle ear	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011452	Functional abnormality of the middle ear	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0040268	Recurrent infections of the middle ear	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0040111	Bilateral external ear deformity	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0400002	Extra concha fold	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0040095	Neoplasm of the outer ear	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0008605	Unilateral external ear deformity	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0000357	Abnormal location of ears	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0040100	Abnormality of the vestibular window	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0100799	Neoplasm of the middle ear	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0008774	Aplasia/Hypoplasia of the inner ear	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0008609	Morphological abnormality of the middle ear	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011452	Functional abnormality of the middle ear	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0040268	Recurrent infections of the middle ear	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0040111	Bilateral external ear deformity	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0400002	Extra concha fold	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0040095	Neoplasm of the outer ear	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0008605	Unilateral external ear deformity	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0000377	Abnormality of the pinna	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0040096	Neoplasm of the inner ear	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0040099	Abnormality of the round window	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0040262	Glue ear	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011390	Morphological abnormality of the inner ear	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0040090	Abnormality of the tympanic membrane	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:3000022	Abnormality of cartilage of external ear	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0000388	Otitis media	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0000372	Abnormality of the auditory canal	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0040115	Abnormality of the Eustachian tube	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0008773	Aplasia/Hypoplasia of the middle ear	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0009893	Telangiectasia of the ear	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0008572	External ear malformation	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0008608	Hypertrophic auricular cartilage	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0008772	Aplasia/Hypoplasia of the external ear	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0100687	Polyotia	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0040099	Abnormality of the round window	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0040262	Glue ear	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011390	Morphological abnormality of the inner ear	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0040090	Abnormality of the tympanic membrane	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:3000022	Abnormality of cartilage of external ear	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0000388	Otitis media	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0000372	Abnormality of the auditory canal	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0040115	Abnormality of the Eustachian tube	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0008773	Aplasia/Hypoplasia of the middle ear	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0009893	Telangiectasia of the ear	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0000377	Abnormality of the pinna	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0040096	Neoplasm of the inner ear	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0008572	External ear malformation	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0008608	Hypertrophic auricular cartilage	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0008772	Aplasia/Hypoplasia of the external ear	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0100687	Polyotia	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0040269	Blocked Eustachian tube	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0000358	Posteriorly rotated ears	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0200047	Chondritis of pinna	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011475	Persistent stapedial artery	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0040112	Abnormal number of tubercles	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0000400	Macrotia	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0030393	Endolymphatic sac tumor	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0040118	Stenosis of the Eustachian tube	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0100663	Synotia	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011252	Cryptotia	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0000405	Conductive hearing impairment	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0010722	Asymmetry of the ears	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0005103	Calcification of the auricular cartilage	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0000375	Abnormal cochlea morphology	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0009895	Abnormality of the crus of the helix	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0410017	Otitis externa	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0000371	Acute otitis media	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011372	Aplasia of the inner ear	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0000413	Atresia of the external auditory canal	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0009738	Abnormality of the antihelix	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0010723	Cystic lesions of the pinnae	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0031353	Otitis media with effusion	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011391	Morphological abnormality of the nerves of the inner ear	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0040116	Aplasia of the Eustachian tube	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0000369	Low-set ears	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0030025	Auricular pit	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0008773	Aplasia/Hypoplasia of the middle ear	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0400004	Long ear	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011384	Abnormality of the internal auditory canal	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0030023	Quelprud nodule	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0100830	Round ear	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0008551	Microtia	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0400005	Short ear	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0009894	Thickened ears	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0040097	Neoplasm of the ceruminal gland	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0030677	Mozart ear	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0009892	Anotia	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0200047	Chondritis of pinna	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011475	Persistent stapedial artery	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0040112	Abnormal number of tubercles	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0000400	Macrotia	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0030393	Endolymphatic sac tumor	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0040118	Stenosis of the Eustachian tube	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0100663	Synotia	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011252	Cryptotia	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0000405	Conductive hearing impairment	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0010722	Asymmetry of the ears	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0005103	Calcification of the auricular cartilage	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0000375	Abnormal cochlea morphology	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0009895	Abnormality of the crus of the helix	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0410017	Otitis externa	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0000371	Acute otitis media	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011372	Aplasia of the inner ear	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0000413	Atresia of the external auditory canal	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0009738	Abnormality of the antihelix	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0010723	Cystic lesions of the pinnae	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0031353	Otitis media with effusion	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011391	Morphological abnormality of the nerves of the inner ear	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0040116	Aplasia of the Eustachian tube	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0000369	Low-set ears	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0030025	Auricular pit	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0008773	Aplasia/Hypoplasia of the middle ear	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0400004	Long ear	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011384	Abnormality of the internal auditory canal	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0040269	Blocked Eustachian tube	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0000358	Posteriorly rotated ears	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0100830	Round ear	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0008551	Microtia	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0400005	Short ear	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0009894	Thickened ears	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0040097	Neoplasm of the ceruminal gland	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0030677	Mozart ear	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0009892	Anotia	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0030023	Quelprud nodule	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0000394	Lop ear	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0009912	Abnormality of the tragus	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0040124	Patent tuba eustachii	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0008541	Superiorly displaced ears	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0009901	Crumpled ear	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0020123	Tympanosclerosis	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0000363	Abnormality of earlobe	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0009588	Vestibular Schwannoma	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0040080	Anteverted ears	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011039	Abnormality of the helix	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011376	Morphological abnormality of the vestibule of the inner ear	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0004459	Exostosis of the external auditory canal	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0008774	Aplasia/Hypoplasia of the inner ear	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0004452	Abnormality of the middle ear ossicles	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011395	Aplasia/Hypoplasia of the cochlea	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0004454	Abnormal middle ear reflexes	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0000402	Stenosis of the external auditory canal	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0000378	Cupped ear	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0000389	Chronic otitis media	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0009896	Abnormality of the antitragus	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0100720	Hypoplasia of the ear cartilage	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:3000002	Abnormal inner ear epithelium morphology	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0000403	Recurrent otitis media	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0040117	Atresia of the Eustachian tube	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0030787	Cerumen abnormality	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0030021	Auricular tag	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0009797	Cholesteatoma	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0030022	Question mark ear	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0030676	Satyr ear	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0020206	Simple ear	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0040098	Basalioma of the outer ear	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0000411	Protruding ear	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0400003	Focal absence of the external ear	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0009912	Abnormality of the tragus	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0040124	Patent tuba eustachii	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0008541	Superiorly displaced ears	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0009901	Crumpled ear	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0020123	Tympanosclerosis	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0000363	Abnormality of earlobe	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0009588	Vestibular Schwannoma	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0040080	Anteverted ears	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011039	Abnormality of the helix	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011376	Morphological abnormality of the vestibule of the inner ear	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0004459	Exostosis of the external auditory canal	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0008774	Aplasia/Hypoplasia of the inner ear	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0004452	Abnormality of the middle ear ossicles	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011395	Aplasia/Hypoplasia of the cochlea	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0004454	Abnormal middle ear reflexes	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0000402	Stenosis of the external auditory canal	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0000378	Cupped ear	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0000389	Chronic otitis media	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0009896	Abnormality of the antitragus	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0100720	Hypoplasia of the ear cartilage	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:3000002	Abnormal inner ear epithelium morphology	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0000403	Recurrent otitis media	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0040117	Atresia of the Eustachian tube	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0030787	Cerumen abnormality	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0030021	Auricular tag	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0009797	Cholesteatoma	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0000394	Lop ear	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0030022	Question mark ear	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0030676	Satyr ear	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0020206	Simple ear	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0040098	Basalioma of the outer ear	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0000411	Protruding ear	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0400003	Focal absence of the external ear	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011392	Abnormality of the vestibular nerve	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0030790	Abnormal cerumen color	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011380	Morphological abnormality of the semicircular canal	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011259	Expanded terminal portion of crus of helix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0008589	Hypoplastic helices	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0004458	Dilatated internal auditory canal	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0040119	Unilateral conductive hearing impairment	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0009898	Underdeveloped crus of the helix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011263	Forward facing earlobe	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011251	Underdeveloped antitragus	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0009913	Aplasia/Hypoplasia of the tragus	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0030788	Impacted cerumen	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0008554	Cochlear malformation	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0009897	Horizontal crus of helix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0009908	Anterior creases of earlobe	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011233	Antihelical shelf	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0008528	Long hairs growing from helix of pinna	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0009589	Bilateral vestibular Schwannoma	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0031510	Linear earlobe crease	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0031228	Abnormal incisura morphology	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0030999	Abnormal vestibular saccule morphology	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0009902	Cleft helix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011254	Type II cryptotia	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0008591	Congenital conductive hearing impairment	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0009899	Prominent crus of helix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0000395	Prominent antihelix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0008523	Posterior helix pit	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011453	Abnormality of the incus	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0040092	Asymmetry of the shape of the ears	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011270	Duplicated tragus	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011395	Aplasia/Hypoplasia of the cochlea	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011377	Aplasia of the vestibule	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0040121	Abnormality of the acoustic reflex	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0005473	Fusion of middle ear ossicles	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011255	Absent crus of helix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0040103	Cutaneous stenosis of the external auditory canal	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011388	Enlarged cochlear aqueduct	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0000410	Mixed hearing impairment	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011257	Serpiginous crus of helix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0009907	Attached earlobe	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011249	Absent antitragus	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0030026	Squared superior portion of helix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0040102	Osseous atresia of the external auditory canal	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011387	Enlarged vestibular aqueduct	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011256	Crus of helix connected to antihelix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0008588	Slit-like opening of the exterior auditory meatus	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011234	Absent antihelix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011261	Darwin tubercle of helix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0008607	Progressive conductive hearing impairment	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011258	Tragal bridge of crus of helix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0004461	Congenital earlobe sinuses	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011248	Everted antitragus	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0009905	Thin ear helix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0008569	Microtia, second degree	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011380	Morphological abnormality of the semicircular canal	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011259	Expanded terminal portion of crus of helix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0008589	Hypoplastic helices	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0004458	Dilatated internal auditory canal	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0040119	Unilateral conductive hearing impairment	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0009898	Underdeveloped crus of the helix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011263	Forward facing earlobe	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011251	Underdeveloped antitragus	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0009913	Aplasia/Hypoplasia of the tragus	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0030788	Impacted cerumen	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0008554	Cochlear malformation	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0009897	Horizontal crus of helix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0009908	Anterior creases of earlobe	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011233	Antihelical shelf	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0008528	Long hairs growing from helix of pinna	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0009589	Bilateral vestibular Schwannoma	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0031510	Linear earlobe crease	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0031228	Abnormal incisura morphology	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0030999	Abnormal vestibular saccule morphology	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0009902	Cleft helix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011254	Type II cryptotia	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0008591	Congenital conductive hearing impairment	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0009899	Prominent crus of helix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0000395	Prominent antihelix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0008523	Posterior helix pit	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011453	Abnormality of the incus	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0040092	Asymmetry of the shape of the ears	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011270	Duplicated tragus	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011395	Aplasia/Hypoplasia of the cochlea	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011377	Aplasia of the vestibule	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0040121	Abnormality of the acoustic reflex	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0005473	Fusion of middle ear ossicles	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011255	Absent crus of helix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0040103	Cutaneous stenosis of the external auditory canal	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011388	Enlarged cochlear aqueduct	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0000410	Mixed hearing impairment	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011257	Serpiginous crus of helix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0009907	Attached earlobe	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011249	Absent antitragus	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0030026	Squared superior portion of helix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0040102	Osseous atresia of the external auditory canal	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011387	Enlarged vestibular aqueduct	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011256	Crus of helix connected to antihelix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0008588	Slit-like opening of the exterior auditory meatus	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011234	Absent antihelix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011261	Darwin tubercle of helix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0008607	Progressive conductive hearing impairment	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011258	Tragal bridge of crus of helix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0004461	Congenital earlobe sinuses	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011248	Everted antitragus	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0009905	Thin ear helix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011392	Abnormality of the vestibular nerve	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0030790	Abnormal cerumen color	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0008569	Microtia, second degree	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011235	Additional crus of antihelix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011264	Discontinuous ascending root of helix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011385	Absent internal auditory canal	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0012717	Severe conductive hearing impairment	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0031511	Diagonal earlobe crease	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0008593	Prominent antitragus	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0030789	Excessive cerumen	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011244	Abnormality of stem of antihelix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0005102	Cochlear degeneration	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011236	Angulated antihelix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011386	Narrow internal auditory canal	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0009748	Large earlobe	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011253	Type I cryptotia	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0008513	Bilateral conductive hearing impairment	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0009906	Aplasia/Hypoplasia of the earlobes	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0009739	Hypoplasia of the antihelix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0100810	Pointed helix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0009590	Unilateral vestibular Schwannoma	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0040093	Asymmetry of the position of the ears	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0009909	Uplifted earlobe	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011269	Bifid tragus	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0009910	Aplasia of the middle ear ossicles	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0009895	Abnormality of the crus of the helix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011245	Abnormality of superior crus of antihelix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0008598	Mild conductive hearing impairment	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0009904	Prominent ear helix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011372	Aplasia of the inner ear	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011454	Abnormality of the malleus	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0040091	Asymmetry of the size of ears	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0040101	Cutaneous atresia of the external auditory canal	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011243	Abnormality of inferior crus of antihelix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011271	Prominent tragus	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011375	Cochlear aplasia	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011379	Dilated vestibule of the inner ear	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0040104	Osseous stenosis of the external auditory canal	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011262	Crimped helix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0012716	Moderate conductive hearing impairment	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011265	Cleft earlobe	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011250	Bifid antitragus	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0000391	Thickened helices	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011396	Abnormality of the cochlear nerve	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0008628	Abnormality of the stapes	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0000368	Low-set, posteriorly rotated ears	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0008544	Abnormally folded helix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0008586	Hypoplasia of the cochlea	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011378	Hypoplasia of the vestibule of the inner ear	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0040120	Abnormality of the reflex of the tensor tympani muscle	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0002265	Large fleshy ears	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011266	Microtia, first degree	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011267	Microtia, third degree	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0012717	Severe conductive hearing impairment	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0031511	Diagonal earlobe crease	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0008593	Prominent antitragus	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0030789	Excessive cerumen	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011244	Abnormality of stem of antihelix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0005102	Cochlear degeneration	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011236	Angulated antihelix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0002265	Large fleshy ears	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011386	Narrow internal auditory canal	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0009748	Large earlobe	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011253	Type I cryptotia	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0008513	Bilateral conductive hearing impairment	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0009906	Aplasia/Hypoplasia of the earlobes	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0009739	Hypoplasia of the antihelix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0100810	Pointed helix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0009590	Unilateral vestibular Schwannoma	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0040093	Asymmetry of the position of the ears	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0009909	Uplifted earlobe	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011269	Bifid tragus	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0009910	Aplasia of the middle ear ossicles	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0009895	Abnormality of the crus of the helix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011245	Abnormality of superior crus of antihelix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0008598	Mild conductive hearing impairment	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0009904	Prominent ear helix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011372	Aplasia of the inner ear	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011454	Abnormality of the malleus	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0040091	Asymmetry of the size of ears	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0040101	Cutaneous atresia of the external auditory canal	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011243	Abnormality of inferior crus of antihelix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011271	Prominent tragus	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011375	Cochlear aplasia	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011379	Dilated vestibule of the inner ear	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0040104	Osseous stenosis of the external auditory canal	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011262	Crimped helix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0012716	Moderate conductive hearing impairment	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011265	Cleft earlobe	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011250	Bifid antitragus	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0000391	Thickened helices	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011396	Abnormality of the cochlear nerve	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0008628	Abnormality of the stapes	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0000368	Low-set, posteriorly rotated ears	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0008544	Abnormally folded helix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0008586	Hypoplasia of the cochlea	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011378	Hypoplasia of the vestibule of the inner ear	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0040120	Abnormality of the reflex of the tensor tympani muscle	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011235	Additional crus of antihelix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011264	Discontinuous ascending root of helix	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011385	Absent internal auditory canal	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011266	Microtia, first degree	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011267	Microtia, third degree	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011456	Absent stapes	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011239	Underdeveloped inferior crus of antihelix	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0000396	Overfolded helix	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0008586	Hypoplasia of the cochlea	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0040114	Absence of the reflex of the tensor tympani muscle	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0100015	Stahl ear	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011394	Hypoplasia of the vestibular nerve	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0000362	Otosclerosis	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011240	Prominent stem of antihelix	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0008577	Underfolded helix	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011383	Enlarged semicircular canal	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011272	Underdeveloped tragus	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011242	Underdeveloped stem of antihelix	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0040108	Morphological abnormality of the anterior semicircular canal	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0000387	Absent earlobe	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0031229	Increased incisura length	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011247	Prominent superior crus of antihelix	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011260	Darwin notch of helix	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0040107	Morphological abnormality of the posterior semicircular canal	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011455	Absent malleus	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011237	Broad inferior crus of antihelix	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0031231	Narrow incisura width	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011375	Cochlear aplasia	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0040122	Impairment of the the acoustic reflex	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0040109	Morphological abnormality of the utricle	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0000396	Overfolded helix	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0008586	Hypoplasia of the cochlea	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0040114	Absence of the reflex of the tensor tympani muscle	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0100015	Stahl ear	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011394	Hypoplasia of the vestibular nerve	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0000362	Otosclerosis	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011240	Prominent stem of antihelix	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0008577	Underfolded helix	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011383	Enlarged semicircular canal	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011272	Underdeveloped tragus	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011242	Underdeveloped stem of antihelix	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0040108	Morphological abnormality of the anterior semicircular canal	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0000387	Absent earlobe	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0031229	Increased incisura length	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011247	Prominent superior crus of antihelix	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011260	Darwin notch of helix	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0040107	Morphological abnormality of the posterior semicircular canal	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011455	Absent malleus	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011237	Broad inferior crus of antihelix	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0031231	Narrow incisura width	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011375	Cochlear aplasia	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0040122	Impairment of the the acoustic reflex	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0040109	Morphological abnormality of the utricle	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011456	Absent stapes	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011239	Underdeveloped inferior crus of antihelix	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011258	Tragal bridge of crus of helix	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011393	Aplasia of the vestibular nerve.	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0200111	Absent stapes head	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011381	Aplasia of the semicircular canal	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0040123	Impairment of the reflex of the tensor tympani muscle	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011259	Expanded terminal portion of crus of helix	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0008559	Hypoplastic superior helix	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0009898	Underdeveloped crus of the helix	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011268	Absent tragus	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0000381	Stapes ankylosis	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011241	Serpiginous stem of antihelix	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011373	Incomplete partition of the cochlea	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011382	Hypoplasia of the semicircular canal	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0009897	Horizontal crus of helix	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0031230	Decreased incisura length	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0031000	Vestibular saccular degeneration	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0008537	Cleft at the superior portion of the pinna	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0040106	Morphological abnormality of the lateral semicircular canal	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0009899	Prominent crus of helix	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0000385	Small earlobe	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0031232	Increased incisura width	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0008529	Absence of acoustic reflex	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011255	Absent crus of helix	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011246	Underdeveloped superior crus of antihelix	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0040110	Morphological abnormality of the saccule	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011257	Serpiginous crus of helix	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011238	Prominent inferior crus of antihelix	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011256	Crus of helix connected to antihelix	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011258	Tragal bridge of crus of helix	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011393	Aplasia of the vestibular nerve.	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0200111	Absent stapes head	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011381	Aplasia of the semicircular canal	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0040123	Impairment of the reflex of the tensor tympani muscle	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011259	Expanded terminal portion of crus of helix	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0008559	Hypoplastic superior helix	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0009898	Underdeveloped crus of the helix	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011268	Absent tragus	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0000381	Stapes ankylosis	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011241	Serpiginous stem of antihelix	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011373	Incomplete partition of the cochlea	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011382	Hypoplasia of the semicircular canal	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0009897	Horizontal crus of helix	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0031230	Decreased incisura length	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0031000	Vestibular saccular degeneration	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0008537	Cleft at the superior portion of the pinna	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0040106	Morphological abnormality of the lateral semicircular canal	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0009899	Prominent crus of helix	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0000385	Small earlobe	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0031232	Increased incisura width	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0008529	Absence of acoustic reflex	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011255	Absent crus of helix	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011246	Underdeveloped superior crus of antihelix	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0040110	Morphological abnormality of the saccule	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011257	Serpiginous crus of helix	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011238	Prominent inferior crus of antihelix	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011256	Crus of helix connected to antihelix	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0007943	Congenital stapes ankylosis	6	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0011374	Incomplete partition of the cochlea type I	6	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0007943	Congenital stapes ankylosis	6	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0011374	Incomplete partition of the cochlea type I	6	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0004453	Overfolding of the superior helices	6	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0008583	Underfolded superior helices	6	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0000376	Incomplete partition of the cochlea type II	6	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	17	8964	600154
HP:0031703	HP:0004453	Overfolding of the superior helices	6	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0008583	Underfolded superior helices	6	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HP:0031703	HP:0000376	Incomplete partition of the cochlea type II	6	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	16	8964	600154
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (1077) :A2ML1 ABCA12 ABCA4 ABCC8 ABHD5 ACAN ACOX1 ACP5 ACTA1 ACTB ACTG1 ACTG2 ACVR1 ADA ADAMTS18 ADAMTS3 ADAMTSL1 ADAMTSL2 ADAR ADGRG6 ADNP ADSL AGA AGBL5 AGPAT2 AGRN AHDC1 AHI1 AHR AHSG AIFM1 AIP AK2 AKT1 ALDH18A1 ALG12 ALG13 ALG3 ALG9 ALMS1 ALOX12B ALOXE3 ALX1 ALX3 ALX4 AMER1 AMMECR1 AMPD2 ANK1 ANKH ANKRD11 ANTXR1 AP1S2 AP3B1 AP3D1 AP4E1 APC APC2 ARHGEF18 ARID1A ARID1B ARID2 ARL13B ARL2BP ARL3 ARL6 ARMC4 ARMC9 ARSG ARVCF ARX ASCL1 ASNS ASXL1 ASXL2 ATIC ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATPAF2 ATR ATRIP ATRX AUTS2 B3GALNT2 B3GAT3 B3GLCT B4GALT7 B4GAT1 B9D1 B9D2 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL11A BCOR BCR BEST1 BHLHA9 BIN1 BLM BLNK BMP1 BMP2 BMP4 BMPER BPTF BRAF BRCA1 BRCA2 BRF1 BRIP1 BRPF1 BRWD3 BSCL2 BTK BUB1 BUB1B BUB3 C12ORF57 C8ORF37 CA4 CAMKMT CAMTA1 CANT1 CASK CBL CC2D2A CCBE1 CCDC114 CCDC151 CCDC22 CCDC39 CCDC40 CCDC47 CCDC65 CCDC8 CCNK CCNQ CD19 CD3D CD3E CD3G CD79A CD79B CD81 CD96 CDC42 CDC45 CDC6 CDCA7 CDH1 CDH11 CDH23 CDHR1 CDK10 CDK13 CDKL5 CDKN1C CDT1 CENPE CENPJ CEP104 CEP120 CEP152 CEP290 CEP41 CEP55 CEP57 CEP78 CERKL CFAP298 CFAP300 CFI CHAMP1 CHAT CHD4 CHD7 CHN1 CHRNA1 CHRNA7 CHRND CHRNG CHST14 CHST3 CHUK CIB2 CIT CLCF1 CLCN7 CLIC2 CLIP2 CLRN1 CNGA1 CNGB1 CNTNAP1 COCH COG1 COG7 COL11A1 COL11A2 COL13A1 COL1A1 COL1A2 COL25A1 COL2A1 COL3A1 COL4A1 COL4A6 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COL7A1 COLEC10 COLEC11 COMT COX1 COX2 COX3 COX7B CPLANE1 CPLX1 CPT2 CR2 CRB1 CREBBP CRKL CRLF1 CRPPA CRX CSNK2A1 CSPP1 CTBP1 CTLA4 CTNND1 CTNND2 CTSD CTU2 CUL4B CUL7 CWC27 CXORF56 CYBA CYBB CYBC1 CYP4F22 DACT1 DAG1 DCAF17 DCHS1 DCLRE1C DCPS DDX11 DEAF1 DHCR24 DHCR7 DHDDS DHODH DHX38 DIAPH3 DIS3L2 DLL3 DLX4 DNAAF1 DNAAF2 DNAAF3 DNAAF5 DNAI1 DNAI2 DNAJC21 DNAL1 DNMT3B DOCK6 DOCK7 DOCK8 DOK7 DPF2 DPH1 DPP6 DPYD DRC1 DSE DST DVL1 DVL3 DYNC2LI1 DYRK1A DZIP1L EBF3 EBP ECE1 EDN1 EDN3 EDNRA EED EEF1A2 EFEMP2 EFTUD2 EHMT1 EIF2S3 EIF4A3 ELMO2 ELN EP300 EPG5 ERCC1 ERCC2 ERCC4 ERCC5 ERCC6 ERCC8 ERF ERMARD ESCO2 ETFA ETFB ETFDH EVC EVC2 EXOSC2 EXT1 EYA1 EYA4 EYS EZH2 FAM161A FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAR1 FAT4 FBN1 FBN2 FBXL4 FBXO11 FCGR3A FGD1 FGF10 FGF20 FGF3 FGF9 FGFR1 FGFR2 FGFR3 FGFRL1 FH FHL1 FIBP FIG4 FKBP14 FKRP FKTN FLI1 FLII FLNA FLNB FMR1 FOXG1 FOXI1 FOXL2 FRAS1 FREM2 FRMD4A FSCN2 FTSJ1 FZD2 GABBR2 GABRD GAS8 GATA1 GATA2 GATA4 GBA GDF5 GDF6 GDNF GJA1 GJB2 GJB3 GJB4 GJB6 GK GLE1 GLI2 GLI3 GLIS3 GLUL GMNN GNAI3 GNB1 GNE GNPTAB GNS GP1BB GPC3 GPC4 GPC6 GPKOW GPR101 GPT2 GPX4 GREB1L GRIP1 GSC GTF2I GTF2IRD1 GTPBP2 GUCA1B H19 H19-ICR HARS HBA1 HBA2 HCCS HDAC4 HDAC6 HDAC8 HECW2 HELLS HERC1 HES7 HGSNAT HHAT HIRA HLA-DPA1 HLA-DPB1 HMGB3 HNRNPK HOXA13 HOXA2 HOXB1 HOXD13 HRAS HSD17B4 HSPA9 HSPG2 HYAL1 HYDIN HYLS1 HYMAI ICK ICOS IDH3B IDS IFIH1 IFT140 IFT172 IFT27 IFT52 IFT81 IFT88 IGBP1 IGF2 IGHM IGLL1 IL17RA IL1RAPL1 IL2RG IL7R IMPDH1 IMPG2 INPP5E INSR INTU IQSEC2 IRX5 ITCH ITGA3 ITGA8 ITGB6 JAG1 JAGN1 JMJD1C KANSL1 KARS KAT6A KAT6B KCNAB2 KCNH1 KCNJ1 KCNJ10 KCNJ11 KCNJ2 KCNQ1 KCNQ1OT1 KCTD1 KDM5C KDM6A KDSR KIAA0556 KIAA0586 KIAA0753 KIAA1109 KIAA1549 KIF11 KIF14 KIF1A KIF1B KIF1BP KIF22 KIF7 KIZ KLF13 KLHL40 KLHL41 KLHL7 KMT2A KMT2D KRAS LAGE3 LARGE1 LARP7 LAS1L LBR LETM1 LFNG LGI4 LIFR LIG4 LIMK1 LIPN LMBRD1 LMNA LMOD3 LONP1 LRAT LRBA LRP2 LRP4 LRP5 LRRC6 LRRC8A LZTFL1 LZTR1 MAD2L2 MAF MAFB MAK MAN2B1 MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPRE2 MARS2 MASP1 MAX MBD5 MBTPS2 MCM5 MCTP2 MDH2 MECP2 MED12 MED13L MEF2C MEGF8 MEIS2 MEOX1 MERTK MESP2 MGAT2 MGP MID2 MITF MKKS MKS1 MLXIPL MMACHC MPDZ MPLKIP MRPS16 MRPS22 MS4A1 MSX2 MUSK MVK MYCN MYH3 MYO18B MYO7A MYO9A MYOD1 MYSM1 NAA10 NALCN NANS NBN NCF1 NCF2 NCF4 ND1 ND4 ND5 ND6 NDE1 NDP NDUFB11 NEB NECTIN1 NEK1 NEK2 NELFA NF1 NF2 NFIA NFIX NFKB1 NFKB2 NHS NIN NIPAL4 NIPBL NOG NOTCH2 NOTCH3 NPHP1 NR2E3 NRAS NRL NSD1 NSD2 NSDHL NSUN2 NTNG1 NUP107 NXN OBSL1 OCLN OCRL OFD1 OPHN1 ORC1 ORC4 ORC6 OSGEP OTOF OTUD6B OTX2 PACS1 PAFAH1B1 PAH PAK3 PALB2 PAM16 PAX1 PBX1 PCARE PCDH15 PCLO PCNT PCYT1A PDE6A PDE6B PDE6D PDE6G PEPD PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGAP1 PGM3 PHF6 PHGDH PHIP PHOX2B PIBF1 PIEZO1 PIEZO2 PIGA PIGH PIGL PIGN PIGS PIGV PIGY PIK3CA PIK3R1 PKHD1 PLAA PLAGL1 PLCB4 PLEC PLG PLK4 PLOD3 PMM2 PNP PNPLA6 POC1A POGZ POLR1A POLR1C POLR1D POLR3A POMGNT1 POMGNT2 POMK POMT1 POMT2 POR PORCN POU3F4 PPM1B PPM1D PPP1CB PPP1R15B PQBP1 PRCD PRDM16 PRDM5 PRDX1 PREPL PRKAR1A PRKCD PRKDC PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRRX1 PRTN3 PRUNE1 PSAT1 PSMB8 PSMD12 PTCH1 PTDSS1 PTEN PTF1A PTH1R PTPN11 PTPN22 PTPRC PTPRF PUF60 PXDN PYCR1 PYCR2 QARS QRICH1 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAC1 RAD21 RAD51 RAD51C RAF1 RAG1 RAG2 RAI1 RAP1A RAP1B RAPSN RARB RASA2 RB1 RBBP8 RBM10 RBM8A RBMX RBP3 RDH12 RECQL4 REEP6 RERE RET RFC2 RFWD3 RGR RHO RIPK4 RIPPLY2 RIT1 RLBP1 RMRP RNASEH2A RNASEH2B RNASEH2C RNF168 RNU4ATAC ROM1 ROR2 RP1 RP2 RP9 RPE65 RPGR RPGRIP1 RPGRIP1L RPL10 RPL11 RPL26 RPL35A RPS23 RPS26 RPS28 RPS6KA3 RRAS RREB1 RSPO2 RSPRY1 RUNX2 RUSC2 RXYLT1 RYR1 SAG SALL1 SALL4 SAMHD1 SATB2 SC5D SCAPER SCARF2 SDCCAG8 SDHA SDHAF2 SDHB SDHC SDHD SDR9C7 SEC24C SEMA3E SEMA4A SEMA5A SEPTIN9 SET SETBP1 SETD2 SETD5 SF3B4 SH3PXD2B SHANK3 SHOC2 SIM1 SIN3A SIX1 SIX2 SIX5 SKI SLC12A6 SLC16A2 SLC18A3 SLC25A1 SLC25A24 SLC26A2 SLC26A4 SLC2A10 SLC35C1 SLC3A1 SLC52A2 SLC5A7 SLC6A17 SLC6A8 SLC6A9 SLC7A14 SLC9A6 SLITRK6 SLX4 SMAD4 SMARCD2 SMC1A SMC3 SMG9 SMOC1 SMS SNAP25 SNAP29 SNRNP200 SNRPB SNX10 SON SOS1 SOS2 SOST SOX10 SOX11 SOX5 SOX9 SPAG1 SPART SPATA7 SPECC1L SPEG SPINT2 SPRED1 SRCAP SRD5A3 SRY SSR4 STAC3 STAMBP STAT3 STRA6 STXBP1 SULT2B1 SUZ12 SYT2 TAB2 TAF1 TALDO1 TAP1 TAP2 TAPBP TAPT1 TAZ TBC1D20 TBC1D24 TBCE TBL1XR1 TBL2 TBR1 TBX1 TBX15 TBX2 TBX22 TBX4 TCF3 TCF4 TCIRG1 TCOF1 TCTN1 TCTN2 TCTN3 TFAP2A TFAP2B TGDS TGM1 TLK2 TMCO1 TMEM107 TMEM127 TMEM138 TMEM165 TMEM216 TMEM231 TMEM237 TMEM67 TMEM70 TMEM94 TNFRSF11A TNFRSF13B TNFRSF13C TNFSF11 TNFSF12 TNNI2 TNNT3 TOE1 TOPORS TP53RK TP63 TPM2 TPM3 TPP2 TPRKB TRAF7 TRAIP TRAPPC9 TREX1 TRIM32 TRIO TRIP13 TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TRPS1 TRPV4 TSHZ1 TSR2 TTC37 TTC8 TTI2 TTN TUB TUBB TUBB3 TUBGCP4 TUBGCP6 TULP1 TWIST1 TWIST2 TXNL4A UBA1 UBE2T UBE3B UFD1 UMPS UNC119 UNC80 UPF3B USB1 USH1C USH1G USH2A USP9X VAC14 VAMP1 VHL VIPAS39 VPS13B VPS33B VPS37A VSX1 WAC WAS WASHC5 WDPCP WDR19 WDR35 WDR4 WDR73 WFS1 WHCR WIPF1 WNT3 WNT4 WNT5A WNT7A XRCC2 XYLT1 XYLT2 YME1L1 YWHAE YY1 ZBTB18 ZBTB20 ZBTB24 ZC4H2 ZDHHC9 ZEB2 ZIC2 ZIC3 ZMPSTE24 ZMYND10 ZNF148 ZNF408 ZNF423 ZNF469 ZNF513 ZNHIT3

Diseases (1019) :618010 742 3474 722 616364 2092 202650 269400 182290 613406 188400 1896 614195 614583 2136 607143 203800 615809 251066 614607 251056 210600 568 33110 84 617333 300755 613807 618268 300707 617694 138 233 612001 667 608779 228520 248340 194190 180849 300354 379 857 602450 606763 615859 614104 302960 137888 614437 79113 610253 133540 216400 3267 3103 231680 52429 107 217622 915 794 207410 616482 3472 90652 2052 219000 251071 2710 164200 300915 236680 612651 312863 608971 616546 2836 200990 275210 617137 2505 214300 610442 251260 122470 117550 505237 912 612394 613179 201750 305600 616038 609069 201000 617751 601457 420741 210710 300455 617412 182212 612289 222600 617475 616920 309583 228410 2323 93333 1297 616145 618050 618164 1231 209885 244450 892 319199 616708 301000 613610 411590 617557 612337 617260 313 791 79134 275630 612813 2971 264470 607944 171430 171433 243310 135100 277 615458 521445 51 616503 46 103050 93 608594 98914 615829 475 608629 2850 300614 963 33355 744 616603 219150 300884 601110 263210 64 306542 136760 228390 2780 300373 1522 2332 261250 148050 2067 230740 85329 85335 608233 617050 3258 821 135900 617808 615451 231183 567 2508 300215 300004 209880 615574 97297 605039 617190 250977 608688 2834 357074 219200 278250 617403 3473 617402 604273 301040 309580 615834 899 245600 709 261540 130070 904 617101 309800 300166 261330 169186 125 210900 613502 614856 261295 617877 607932 608022 529962 115150 1340 613707 613706 616202 300659 269700 47 307200 257300 1777 218340 314647 614756 163937 300749 613563 1454 235510 615067 616037 7 613808 615504 2616 614205 618147 140952 1572 240500 613493 615617 615615 615607 613501 612692 211750 1308 616737 2554 617063 613805 2268 616910 1997 211380 231169 617360 3095 85173 614732 613804 613676 616300 614114 615500 618063 610984 616579 617159 214800 608930 253290 199318 2990 265000 601776 143095 613630 617090 610313 300886 618186 611209 2021 154780 3450 616720 287 166011 85166 132450 156550 108300 286 130000 254090 79409 293843 550 300887 2754 277170 608836 272430 614643 617062 900 610127 618142 85293 250410 301013 617466 3464 241080 601390 616459 613398 819 602398 270400 263750 246 2849 267000 616788 613193 612518 614874 244400 612444 617052 614017 242860 614219 217390 994 208150 618027 616901 2514 293948 615294 615539 614653 3107 180700 616331 616894 617088 731 617330 300960 613870 615706 612798 616367 3447 617561 616393 610536 268305 3019 194050 242840 601675 615272 616570 207 268300 269000 952 617763 502 602588 2792 113650 166780 277590 1832 259775 3412 300514 609053 614083 616154 616006 615546 284979 2462 115 121050 615471 618089 615707 149730 1848 2791 90024 610706 3237 2645 93258 615465 166250 93259 1555 313855 93260 87 101200 614592 123500 101400 93262 100800 15 29072 300280 617107 216340 236670 1826 300321 300048 309350 311300 304120 300244 503 150250 908 300624 261144 110100 616819 309549 1606 616726 190685 3226 608013 257850 317 304400 307030 611890 610829 672 146510 174700 610199 610015 616835 602483 3166 269921 252500 252940 373 93329 2570 477673 250220 602471 617988 1001 163966 300863 3459 199 617268 617011 1422 616580 2438 612290 614744 218040 261515 616854 224410 255800 601492 608647 96191 607594 309900 617102 617895 52055 300472 616489 601495 613953 213300 508 246200 617926 617925 611174 613385 614748 191830 118450 616022 610443 613641 616268 85201 3047 603736 135500 241200 170390 2036 181270 85279 300534 2322 147920 300867 617822 2526 152950 616258 66629 609460 93360 166024 319182 605130 615278 609942 2065 615071 309585 215140 169400 280 617468 601559 235 277380 1662 740 1458 600373 614700 222448 2143 607634 614935 613506 601088 248500 638 3238 157800 616734 616430 257920 156200 85284 2273 617564 1596 778 300260 300055 776 309520 616789 613443 614976 261190 212066 85202 245150 300928 617306 249000 277400 615219 234050 610498 611719 168550 610377 164280 1147 616549 618116 276432 300855 615419 647 605013 649 256030 3253 2751 601321 613735 561 602535 293978 627 302350 614851 185800 184460 955 102500 2789 130720 613224 300831 1507 612921 251290 534 2750 300804 311200 300209 137831 300486 224690 613800 613803 617729 617452 990 615009 217385 300558 613320 615560 617641 608027 2637 210720 608940 214100 614870 614859 614866 614872 617370 202370 214110 615802 615816 301900 2671 256520 617991 616843 2461 1154 248700 108145 280000 280633 614080 618143 239300 276280 269880 617527 614669 612138 97231 2518 212065 2377 614813 616462 861 248390 613717 264090 95699 617450 2701 617506 616817 93947 93946 309500 90354 1359 615966 617481 2615 256040 617516 77301 610828 2658 151050 109 65288 50945 151100 397 508488 612940 614438 616420 615760 617982 2510 614222 1387 600118 212720 614225 611554 611553 2470 1587 311900 300238 1225 218600 616975 263650 615355 175 610333 2636 616651 268310 435938 300998 612562 614900 612528 613309 606164 303600 192 3301 618021 616723 1452 617773 107480 959 251019 612313 607330 600920 615993 168000 162100 618106 798 616078 269150 616831 245 1788 154400 137834 249420 48652 606232 607721 171829 94065 605192 488437 218000 59 300523 2095 56304 3342 266265 616269 617301 85278 300243 221200 139210 610759 206920 66631 1393 117650 500150 617140 1513 615866 616803 140 114290 615505 101000 1519 145410 270420 2044 136140 612379 1772 370927 300934 255995 614261 2314 601186 300966 606003 604571 616897 302060 79500 220500 241410 602342 618223 302905 921 261279 616941 610954 154500 613885 2753 258860 113620 169100 1388 213980 614727 608091 2752 614424 602152 1194 614052 618316 174810 614969 1071 69085 604292 106260 129400 444463 616777 617061 77258 190350 190351 607842 300946 222470 615541 156610 300570 617746 920 608572 1145 615518 616801 604173 300968 613404 208085 906 220210 614378 251300 273395 247768 611812 2879 276820 85194 605822 617302 36367 3042 259050 614069 314580 300799 235730 609637 306955 615444 648 171866 2604 231050 615873 220493 613456 391474 300990 123000 613744 110 564 500 163950 1052 163693 1425 2318 1299 130650 601369 215150 300914 2556 397715 281 35107 818 2311 85282 613684 610758 2343 75857 193530 305400 2117 83 123790 614557 2308 272460 705 600791 274600 466688 85212 118100 218400 1486 312870 98791 887 3071 800 2189 300143 457193 305450 29 178110 186500 220497 2209 44 95433 127 2059 616809 602501 521426 1713 3320 607323 2963 628 1106 610733 611584 611431 1617 1727 260660 2896 1394 352530 2635 200110 30 193 98907 808 3329 166200 166220 130050 609129 617898 488613 601071 300868 616001 609136 300352

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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